chr_Break1 coord_Break1 chr_Break2 coord_Break2 TypeSV Phenotype SV_ID source refGenome genePhenoConsideration userTADmap chr3 54949512,54949519 chr17 68247915,68247919 Translocation head_neck,hearing_ear,integument,skeletal_system,vision_eye DGAP003 PMID:27841880 hg19 yes no chr7 47368687,47368688 chr8 38292459,38292460 Translocation genitourinary_system,head_neck,reproductive_system DGAP011 PMID:27841880 hg19 yes no chr11 45965064,45965069 chr19 8030126,8030133 Translocation cardiovascular,digestive,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye DGAP012 PMID:27841880 hg19 yes no chr10 107711581,107714387 chrX 51703306,51707847 Translocation connective_tissue,digestive,genitourinary_system,integument,limbs,musculature,nervous_system,reproductive_system,respiratory_system,skeletal_system DGAP017 PMID:27841880 hg19 yes no chr7 88352066,88352067 chr12 97860651,97860653 Translocation endocrine,genitourinary_system,head_neck,nervous_system,neurodevelopmental,reproductive_system,skeletal_system DGAP032 PMID:27841880 hg19 yes no chr7 92434321,92434331 chr9 10964656,10964661 Translocation growth_abnormality,head_neck,immune_system,musculature,nervous_system,neurodevelopmental,respiratory_system,skeletal_system DGAP055 PMID:27841880 hg19 yes no chr4 13146929, chr14 91866906,91866913 Translocation behaviour_neurological_cognitive,connective_tissue,digestive,genitourinary_system,growth_abnormality,head_neck,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye DGAP069 PMID:27841880 hg19 yes no chr8 60895263,60895267 chr9 21845448,21845456 Translocation cardiovascular,hearing_ear,integument,limbs,skeletal_system DGAP090 PMID:27841880 hg19 yes no chr4 144634414,144634535 chr15 33273614,33273934 Translocation cardiovascular,head_neck,hearing_ear,immune_system,musculature,respiratory_system DGAP091 PMID:27841880 hg19 yes no chr19 6384980,6384984 chrX 18456503,18456504 Translocation nervous_system,neurodevelopmental,vision_eye DGAP093 PMID:27841880 hg19 yes no chr9 33697171,33697179 chrX 16848016,16848017 Translocation behaviour_neurological_cognitive,head_neck,integument,musculature,nervous_system,neurodevelopmental,vision_eye DGAP097 PMID:27841880 hg19 yes no chr3 80706874,80706876 chr3 114735958,114735959 Inversion behaviour_neurological_cognitive,nervous_system,neurodevelopmental DGAP099 PMID:27841880 hg19 yes no chr5 176906708,176906713 chrX 44759733,44759735 Translocation digestive,growth_abnormality,head_neck,hearing_ear,homeostasis_metabolism,nervous_system,neurodevelopmental,skeletal_system,vision_eye DGAP100 PMID:27841880 hg19 yes no chr1 27926584,27926596 chr5 138665751,138665757 Translocation cardiovascular,connective_tissue,digestive,genitourinary_system,head_neck,hearing_ear,integument,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,urinary_system,vision_eye DGAP105 PMID:27841880 hg19 yes no chrX 141915776,141922633 chrX 154060808,154066467 Inversion behaviour_neurological_cognitive,digestive,growth_abnormality,head_neck,integument,limbs,musculature,nervous_system,skeletal_system DGAP108 PMID:27841880 hg19 yes no chr16 46403287,46403291 chr20 53969636,53969640 Translocation cardiovascular,digestive,genitourinary_system,growth_abnormality,immune_system,limbs,musculature,nervous_system,neurodevelopmental,reproductive_system,respiratory_system,skeletal_system,vision_eye DGAP111 PMID:27841880 hg19 yes no chr1 198076137,198076141 chr3 110275764,110275769 Translocation head_neck,nervous_system,neurodevelopmental,skeletal_system,vision_eye DGAP113 PMID:27841880 hg19 yes no chr5 92743251,92743252 chr13 99468197,99468200 Translocation digestive,head_neck,hearing_ear,musculature,skeletal_system DGAP121 PMID:27841880 hg19 yes no chr5 29658426,29658440 chr10 67539990,67539995 Translocation behaviour_neurological_cognitive,genitourinary_system,nervous_system,neurodevelopmental,urinary_system DGAP126 PMID:27841880 hg19 yes no chr1 86157131,86157132 chr5 88829562,88829564 Translocation behaviour_neurological_cognitive,head_neck,integument,musculature,nervous_system,neurodevelopmental DGAP131 PMID:27841880 hg19 yes no chr5 69973529,69973530 chr7 94979567,94979568 Translocation head_neck,nervous_system,neurodevelopmental,skeletal_system DGAP132 PMID:27841880 hg19 yes no chr1 193491602, chr6 100159181,100159182 Translocation adipose_tissue,connective_tissue,digestive,endocrine,head_neck,immune_system,integument,nervous_system,neurodevelopmental,skeletal_system DGAP138 PMID:27841880 hg19 yes no chr2 149034431,149034432 chr22 45671558,45671560 Translocation behaviour_neurological_cognitive,digestive,nervous_system,neurodevelopmental DGAP142 PMID:27841880 hg19 yes no chrX 39741845,39741846 chr11 126910400,126910404 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental DGAP148 PMID:27841880 hg19 yes no chr2 203082134,203082143 chr8 143062504,143062505 Translocation digestive,head_neck DGAP151 PMID:27841880 hg19 yes no chr9 98807488,98807491 chr19 38962777,38962784 Translocation behaviour_neurological_cognitive,growth_abnormality,head_neck,immune_system,integument,nervous_system,neurodevelopmental DGAP152 PMID:27841880 hg19 yes no chr17 20682684,20682691 chrX 44372164,44372172 Translocation behaviour_neurological_cognitive,head_neck,integument,nervous_system,neurodevelopmental DGAP153 PMID:27841880 hg19 yes no chr9 140661623,140661654 chr11 46619320,46619326 Translocation behaviour_neurological_cognitive,cardiovascular,digestive,head_neck,immune_system,integument,nervous_system,neurodevelopmental,respiratory_system DGAP155 PMID:27841880 hg19 yes no chr3 71072118,71072125 chr10 62133175,62133183 Translocation connective_tissue,digestive,head_neck,nervous_system,neurodevelopmental DGAP157 PMID:27841880 hg19 yes no chr2 8247756,8247757 chr11 15825269,15825273 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental DGAP162 PMID:27841880 hg19 yes no chr2 39206240,39206242 chr14 31717833,31717834 Translocation genitourinary_system,head_neck,hearing_ear,immune_system,nervous_system,neurodevelopmental,reproductive_system,urinary_system,vision_eye DGAP163 PMID:27841880 hg19 yes no chr2 41119971,41119974 chr2 166876479,166876483 Inversion head_neck,nervous_system,neurodevelopmental,skeletal_system DGAP166 PMID:27841880 hg19 yes no chr1 43493587,43493589 chr19 7512323,7512335 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental,skeletal_system DGAP170 PMID:27841880 hg19 yes no chr17 5456019,5456021 chr18 13529461,13529462 Translocation behaviour_neurological_cognitive,digestive,nervous_system,neurodevelopmental,skeletal_system DGAP171 PMID:27841880 hg19 yes no chrX 82275014,82320865 chrX 108129970,108149247 Inversion head_neck,hearing_ear,nervous_system,skeletal_system DGAP176 PMID:27841880 hg19 yes no chr13 85092268,85092269 chr2 7253685,7253686 Translocation cardiovascular,digestive,genitourinary_system,head_neck,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,urinary_system DGAP179 PMID:27841880 hg19 yes no chr11 35077326,35077343 chr12 23711182,23711192 Translocation nervous_system,neurodevelopmental DGAP189 PMID:27841880 hg19 yes no chr8 23337423,23342967 chrX 22004187,22009995 Translocation nervous_system,neurodevelopmental DGAP190 PMID:27841880 hg19 yes no chr5 88706882,88706887 chr7 94007560,94007567 Translocation hearing_ear,musculature,nervous_system,neurodevelopmental DGAP191 PMID:27841880 hg19 yes no chr7 35404740,35404781 chr16 64401069,64401073 Translocation musculature,nervous_system,neurodevelopmental DGAP192 PMID:27841880 hg19 yes no chr2 32310434,32310711 chr2 171827243, Inversion head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system DGAP193 PMID:27841880 hg19 yes no chr13 22056275,22059427 chr1 19731464,19734491 Translocation head_neck,musculature DGAP198 PMID:27841880 hg19 yes no chr1 120532898,120533302 chr1 145288006,145288014 Inversion growth_abnormality,head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system DGAP199 PMID:27841880 hg19 yes no chr7 69685967,69685977 chr7 157577842, Inversion behaviour_neurological_cognitive,connective_tissue,growth_abnormality,head_neck,hearing_ear,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system DGAP201 PMID:27841880 hg19 yes no chrX 44893800,44901361 chrX 117134725,117140815 Inversion blood_hematopoietic_system,genitourinary_system,growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system,urinary_system,vision_eye DGAP202 PMID:27841880 hg19 yes no chr5 24272298,24272302 chr5 88400843,88400848 Inversion behaviour_neurological_cognitive,musculature,nervous_system,neurodevelopmental DGAP218 PMID:27841880 hg19 yes no chr1 54762795,54762810 chr6 6348530, Translocation growth_abnormality,head_neck,nervous_system,neurodevelopmental DGAP220 PMID:27841880 hg19 yes no chr1 53133119, chr5 89055498,89055499 Translocation growth_abnormality,head_neck,nervous_system,skeletal_system DGAP222 PMID:27841880 hg19 yes no chr14 64721084,64721088 chr14 95038886,95038887 Inversion cardiovascular,digestive,endocrine,genitourinary_system,head_neck,homeostasis_metabolism,integument,nervous_system,urinary_system,vision_eye DGAP223 PMID:27841880 hg19 yes no chr7 85065138,85065436 chr12 41784494,41784516 Translocation cardiovascular,growth_abnormality,head_neck,nervous_system,neurodevelopmental DGAP224 PMID:27841880 hg19 yes no chr2 200092423,200092424 chr8 18574077,18574078 Translocation growth_abnormality,nervous_system,neurodevelopmental DGAP237 PMID:27841880 hg19 yes no chr7 52441833,52441835 chr7 121624615,121624618 Inversion behaviour_neurological_cognitive,nervous_system,neurodevelopmental,skeletal_system DGAP240 PMID:27841880 hg19 yes no chr3 161887906,161887919 chr4 79231476,79231491 Translocation behaviour_neurological_cognitive,digestive,growth_abnormality,neoplasm_cancer,nervous_system,neurodevelopmental DGAP241 PMID:27841880 hg19 yes no chr1 216952122,216953113 chr5 93556332,93556663 Translocation hearing_ear,nervous_system,neurodevelopmental DGAP242 PMID:27841880 hg19 yes no chr1 164768863,164768893 chr4 11161676,11161681 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental,skeletal_system DGAP243 PMID:27841880 hg19 yes no chr3 147428507,147428516 chr5 11420640,11420650 Translocation adipose_tissue,behaviour_neurological_cognitive,connective_tissue,head_neck,integument,limbs,nervous_system,neurodevelopmental DGAP244 PMID:27841880 hg19 yes no chr3 36969141,36969450 chr14 29745315,29745323 Translocation head_neck,nervous_system,neurodevelopmental,skeletal_system DGAP245 PMID:27841880 hg19 yes no chr2 199943781,199943805 chr11 121638616,121642346 Translocation nervous_system,neurodevelopmental DGAP249 PMID:27841880 hg19 yes no chr12 2707616,2707634 chr1 50758453,50758460 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental DGAP250 PMID:27841880 hg19 yes no chr14 99346650,99371578 chr15 47725044,47725060 Translocation behaviour_neurological_cognitive,nervous_system,vision_eye DGAP251 PMID:27841880 hg19 yes no chr3 104627622,104627629 chr18 19498398,19498400 Translocation digestive,head_neck,nervous_system,respiratory_system,skeletal_system DGAP252 PMID:27841880 hg19 yes no chr11 61999067,61999068 chr17 74405340,74405346 Translocation growth_abnormality,head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system DGAP255 PMID:27841880 hg19 yes no chr9 29770647,29770663 chr14 26447986,26447990 Translocation behaviour_neurological_cognitive,blood_hematopoietic_system,head_neck,hearing_ear,immune_system,nervous_system,respiratory_system,voice DGAP263 PMID:27841880 hg19 yes no chr2 216997527, chr3 30846416,30846425 Translocation immune_system,limbs,nervous_system,neurodevelopmental,respiratory_system,skeletal_system DGAP264 PMID:27841880 hg19 yes no chr10 53889325,53889327 chr14 46988908,46988911 Translocation genitourinary_system,head_neck,integument,nervous_system,neurodevelopmental,urinary_system DGAP266 PMID:27841880 hg19 yes no chrX 50750620,50750637 chrX 99126508,99126511 Inversion behaviour_neurological_cognitive,nervous_system,neurodevelopmental,voice DGAP270 PMID:27841880 hg19 yes no chr6 51132362,51132364 chr11 33691621,33691622 Translocation nervous_system,neurodevelopmental DGAP273 PMID:27841880 hg19 yes no chr6 50201436,50201441 chr20 49262496,49262506 Translocation cardiovascular,skeletal_system,vision_eye DGAP274 PMID:27841880 hg19 yes no chr10 120586180,120586182 chr15 25219251, Translocation adipose_tissue,connective_tissue,digestive,embryo_prenatal,growth_abnormality,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system DGAP278 PMID:27841880 hg19 yes no chr4 31055843,31055845 chr14 37866612,37866615 Translocation behaviour_neurological_cognitive,connective_tissue,digestive,embryo_prenatal,growth_abnormality,head_neck,hearing_ear,limbs,musculature,nervous_system,neurodevelopmental,respiratory_system,skeletal_system,vision_eye DGAP283 PMID:27841880 hg19 yes no chrX 55174463, chrX 150284697,150284701 Inversion cardiovascular,embryo_prenatal,genitourinary_system,nervous_system,urinary_system DGAP285 PMID:27841880 hg19 yes no chr10 10161498,10161500 chr14 95212572,95212573 Translocation behaviour_neurological_cognitive,head_neck,musculature,nervous_system,neurodevelopmental DGAP287 PMID:27841880 hg19 yes no chr6 112975803,112976085 chr17 69727919,69728124 Translocation head_neck DGAP288 PMID:27841880 hg19 yes no chr12 52269668,52269674 chr17 27924463,27924465 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental DGAP291 PMID:27841880 hg19 yes no chr1 120664714,120664796 chr13 22239581,22240476 Translocation behaviour_neurological_cognitive,digestive,head_neck,hearing_ear,immune_system,musculature,neoplasm_cancer,nervous_system DGAP292 PMID:27841880 hg19 yes no chr12 83594357,83594363 chr14 48463406,48463408 Translocation behaviour_neurological_cognitive,genitourinary_system,head_neck,hearing_ear,limbs,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye DGAP296 PMID:27841880 hg19 yes no chr5 88058972, chr15 100883141,100883143 Translocation behaviour_neurological_cognitive,genitourinary_system,head_neck,hearing_ear,integument,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye DGAP301 PMID:27841880 hg19 yes no chrX 10214921,10214922 chrX 68179157,68179158 Inversion head_neck,vision_eye DGAP302 PMID:27841880 hg19 yes no chr2 104631779,104631878 chr2 163458523,163458835 Inversion behaviour_neurological_cognitive,cardiovascular,growth_abnormality,head_neck,hearing_ear,immune_system,integument,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye DGAP314 PMID:27841880 hg19 yes no chr6 9394991,9394994 chr6 63115685,63115715 Inversion head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system DGAP315 PMID:27841880 hg19 yes no chr1 240731024,240731030 chr14 42564475,42564485 Translocation genitourinary_system,head_neck,immune_system,limbs,nervous_system,neurodevelopmental,reproductive_system,respiratory_system,skeletal_system,urinary_system,vision_eye DGAP318 PMID:27841880 hg19 yes no chr4 161913247, chr13 59345836,59345837 Translocation cardiovascular,growth_abnormality,head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system DGAP319 PMID:27841880 hg19 yes no chr1 208544055,208544091 chr18 63566037,63566045 Translocation genitourinary_system,growth_abnormality,nervous_system,neurodevelopmental,reproductive_system,urinary_system DGAP322 PMID:27841880 hg19 yes no chr2 145110936,145110937 chr14 83574719,83574724 Translocation musculature,nervous_system,neurodevelopmental DGAP329 PMID:27841880 hg19 yes no chr3 118271920,118271923 chr18 52909152,52909158 Translocation head_neck,musculature,nervous_system,neurodevelopmental MGH9 PMID:27841880 hg19 yes no chr5 88793025,88793026 chr15 94759893,94759898 Translocation nervous_system,neurodevelopmental ROC1 PMID:27841880 hg19 yes no chr10 61982160,61982161 chr10 80996001,80996002 Inversion cardiovascular ROC3 PMID:27841880 hg19 yes no chr1 7654856,7654860 chr14 51518575,51518584 Translocation musculature,nervous_system,neurodevelopmental ROC4 PMID:27841880 hg19 yes no chr16 3107689,3107865 chr17 22245536,22245671 Translocation head_neck,nervous_system,neurodevelopmental,skeletal_system ROC5 PMID:27841880 hg19 yes no chr4 31055843,31055846 chr14 37866615,37866620 Translocation head_neck,limbs,skeletal_system ROC6 PMID:27841880 hg19 yes no chr5 52768751,52768753 chr9 104269134,104269137 Translocation nervous_system,neurodevelopmental ROC9 PMID:27841880 hg19 yes no chr7 92261021,92261036 chr7 142885901,142885906 Inversion cardiovascular,head_neck ROC15 PMID:27841880 hg19 yes no chr7 47072804,47131857 chr7 69405740,69443921 Inversion behaviour_neurological_cognitive,head_neck,nervous_system ROC17 PMID:27841880 hg19 yes no chr6 75306558,75306576 chr13 69060655,69060658 Translocation head_neck,nervous_system,neurodevelopmental,skeletal_system ROC24 PMID:27841880 hg19 yes no chr11 127375917,127375919 chr12 104928418,104928424 Translocation nervous_system,neurodevelopmental ROC33 PMID:27841880 hg19 yes no chr9 100147259,100147266 chr9 129235210,129235377 Inversion head_neck ROC34 PMID:27841880 hg19 yes no chr6 51021296,51021311 chr6 160884785,160884789 Inversion head_neck,nervous_system,neurodevelopmental,skeletal_system ROC37 PMID:27841880 hg19 yes no chr2 146622966,146622970 chr3 115275602,115275603 Translocation nervous_system,neurodevelopmental ROC39 PMID:27841880 hg19 yes no chr2 88265685,88272132 chr2 113046244,113048680 Inversion blood_hematopoietic_system,immune_system,nervous_system,neurodevelopmental ROC40 PMID:27841880 hg19 yes no chr12 19689175,19689179 chr12 82272180,82272194 Inversion nervous_system,neurodevelopmental ROC41 PMID:27841880 hg19 yes no chr1 178012970,178012972 chr1 194194470,194194472 Inversion nervous_system,neurodevelopmental ROC55 PMID:27841880 hg19 yes no chr8 88901040,88901591 chr8 117471681,117471801 Inversion nervous_system,neurodevelopmental ROC59 PMID:27841880 hg19 yes no chr8 79810404,79810407 chr14 29765534,29765537 Translocation head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system NIJ1 PMID:27841880 hg19 yes no chr5 7846450,7846455 chr17 80243258,80243260 Translocation head_neck,hearing_ear,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye NIJ3 PMID:27841880 hg19 yes no chr5 85190301,85190325 chr5 118196906,118200609 Inversion behaviour_neurological_cognitive,head_neck,hearing_ear,integument,nervous_system,neurodevelopmental,vision_eye NIJ4 PMID:27841880 hg19 yes no chr2 23214466,23216386 chr10 76605926,76609386 Translocation behaviour_neurological_cognitive,growth_abnormality,head_neck,hearing_ear,homeostasis_metabolism,integument,musculature,nervous_system,neurodevelopmental,skeletal_system,voice NIJ6 PMID:27841880 hg19 yes no chr17 67256102,67256103 chr22 32682439,32682467 Translocation cardiovascular,head_neck,integument,limbs,nervous_system,neurodevelopmental,skeletal_system NIJ9 PMID:27841880 hg19 yes no chr19 43317301,43317622 chrX 42004520,42006309 Translocation behaviour_neurological_cognitive,musculature,nervous_system,neurodevelopmental NIJ10 PMID:27841880 hg19 yes no chr6 54409817,54409818 chr6 113602140,113602142 Inversion nervous_system,neurodevelopmental,vision_eye NIJ11 PMID:27841880 hg19 yes no chr2 105990245,105990246 chr2 199613232,199613234 Inversion behaviour_neurological_cognitive,genitourinary_system,growth_abnormality,head_neck,limbs,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye NIJ12 PMID:27841880 hg19 yes no chr1 61789104, chr1 84393785, Inversion head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system,vision_eye NIJ14 PMID:27841880 hg19 yes no chr2 2182453,2182460 chr17 65010604,65014386 Translocation immune_system,integument,nervous_system,neurodevelopmental NIJ15 PMID:27841880 hg19 yes no chr2 2011765, chr10 125469053,125469215 Translocation behaviour_neurological_cognitive,head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system NIJ16 PMID:27841880 hg19 yes no chr1 213954769,213954780 chr4 59217159,59217164 Translocation behaviour_neurological_cognitive,cardiovascular,head_neck,hearing_ear,immune_system,integument,limbs,neoplasm_cancer,nervous_system,neurodevelopmental,skeletal_system NIJ18 PMID:27841880 hg19 yes no chr2 44600852,44601467 chr4 111753931,111754155 Translocation nervous_system,neurodevelopmental,vision_eye NIJ20 PMID:27841880 hg19 yes no chr21 35077301,35077304 chrX 130007427,130007454 Translocation connective_tissue,growth_abnormality,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye UTR1 PMID:27841880 hg19 yes no chr21 31779945,31779950 chr6 86322194,86322197 Translocation behaviour_neurological_cognitive,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye UTR3 PMID:27841880 hg19 yes no chr14 83843844,83843847 chr7 19046446, Translocation digestive,head_neck,hearing_ear,limbs,nervous_system,neurodevelopmental,skeletal_system,vision_eye UTR4 PMID:27841880 hg19 yes no chr2 104777075,104782844 chr5 157548506,157552658 Translocation head_neck,immune_system,musculature,nervous_system,neurodevelopmental,respiratory_system,skeletal_system UTR5 PMID:27841880 hg19 yes no chr19 13131525,13134650 chr5 162651347,162659654 Translocation head_neck,nervous_system,neurodevelopmental UTR7 PMID:27841880 hg19 yes no chr10 2572670,2572679 chr17 69391220,69395705 Translocation digestive,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system UTR8 PMID:27841880 hg19 yes no chr10 10298352,10298462 chr2 63978453,63978481 Translocation behaviour_neurological_cognitive,cardiovascular,head_neck,musculature,nervous_system,neurodevelopmental UTR10 PMID:27841880 hg19 yes no chr19 39140556,39140557 chr21 38776963,38776964 Translocation behaviour_neurological_cognitive,cardiovascular,digestive,head_neck,hearing_ear,immune_system,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye UTR12 PMID:27841880 hg19 yes no chr16 65826369,65827082 chr6 43811346,43811369 Translocation musculature,nervous_system,neurodevelopmental UTR16 PMID:27841880 hg19 yes no chr3 114447919,114447922 chr18 65690061,65690062 Translocation behaviour_neurological_cognitive,digestive,embryo_prenatal,growth_abnormality,head_neck,hearing_ear,musculature,nervous_system,neurodevelopmental,skeletal_system UTR17 PMID:27841880 hg19 yes no chr1 48200029,48200034 chr3 7104708,7104710 Translocation behaviour_neurological_cognitive,nervous_system,neurodevelopmental UTR18 PMID:27841880 hg19 yes no chr5 176621271,176621676 chr7 137784681,137784871 Translocation cardiovascular,growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system UTR21 PMID:27841880 hg19 yes no chr1 27647082 chr1 28017518 Duplication nervous_system,neurodevelopmental U1 PMID:31801603 hg19 yes no chr17 2534547 chr17 2540111 Deletion nervous_system,neurodevelopmental,vision_eye U101 PMID:31801603 hg19 yes no chr17 6857095 chr17 7625999 Deletion head_neck,integument,nervous_system,neurodevelopmental,skeletal_system,vision_eye U102 PMID:31801603 hg19 yes no chr17 14087468 chr17 15471179 Duplication behaviour_neurological_cognitive,nervous_system,neurodevelopmental U103 PMID:31801603 hg19 yes no chr17 16790198 chr17 20218793 Duplication nervous_system,neurodevelopmental U104 PMID:31801603 hg19 yes no chr17 29000019 chr17 30380381 Deletion growth_abnormality,integument,nervous_system,neurodevelopmental U105 PMID:31801603 hg19 yes no chr17 34815551 chr17 36307189 Deletion nervous_system,neurodevelopmental U108 PMID:31801603 hg19 yes no chr17 43683422 chr17 44356361 Duplication behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental U109 PMID:31801603 hg19 yes no chr1 146501348 chr1 147826789 Deletion growth_abnormality,nervous_system,neurodevelopmental U11 PMID:31801603 hg19 yes no chr18 63444300 chr18 63507383 Duplication nervous_system,neurodevelopmental U110 PMID:31801603 hg19 yes no chr18 71844700 chr18 78004048 Deletion cardiovascular U111 PMID:31801603 hg19 yes no chr19 1053677 chr19 1638919 Deletion integument,nervous_system,neurodevelopmental U112.1 PMID:31801603 hg19 yes no chr20 62117518 chr20 62227081 Duplication integument,nervous_system,neurodevelopmental U112.2 PMID:31801603 hg19 yes no chr19 16438039 chr19 17492824 Deletion head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system,vision_eye U114 PMID:31801603 hg19 yes no chr19 47694411 chr19 47834105 Deletion limbs U115 PMID:31801603 hg19 yes no chr19 54186822 chr19 54603146 Duplication cardiovascular,head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system U116 PMID:31801603 hg19 yes no chr19 55099595 chr19 56626448 Deletion head_neck,hearing_ear,nervous_system,neurodevelopmental U117 PMID:31801603 hg19 yes no chr20 63244 chr20 772614 Deletion growth_abnormality,nervous_system,neurodevelopmental U118 PMID:31801603 hg19 yes no chr20 8863372 chr20 17890976 Duplication nervous_system,neurodevelopmental U119 PMID:31801603 hg19 yes no chr1 153751264 chr1 154439066 Deletion head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system U12.1 PMID:31801603 hg19 yes no chr3 195633769 chr3 197837189 Duplication head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system U12.2 PMID:31801603 hg19 yes no chr22 18624958 chr22 20312668 Deletion nervous_system,neurodevelopmental U120 PMID:31801603 hg19 yes no chr22 18844632 chr22 21174444 Deletion nervous_system,neurodevelopmental U121 PMID:31801603 hg19 yes no chr22 18861748 chr22 21463730 Deletion growth_abnormality,nervous_system,neurodevelopmental U122 PMID:31801603 hg19 yes no chr22 18886915 chr22 20312668 Deletion nervous_system,neurodevelopmental U123 PMID:31801603 hg19 yes no chr22 18886915 chr22 21462353 Duplication nervous_system,neurodevelopmental U124 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Deletion cardiovascular,nervous_system,neurodevelopmental U125 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Deletion head_neck U126 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Deletion nervous_system,neurodevelopmental U127 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Deletion cardiovascular,head_neck,nervous_system,neurodevelopmental U128 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Duplication genitourinary_system,growth_abnormality,head_neck,nervous_system,neurodevelopmental,reproductive_system,urinary_system U129 PMID:31801603 hg19 yes no chr1 241907691 chr1 249218992 Deletion head_neck,nervous_system,skeletal_system U13 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Duplication growth_abnormality,nervous_system,neurodevelopmental U130 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Deletion cardiovascular,genitourinary_system,growth_abnormality,urinary_system U131 PMID:31801603 hg19 yes no chr22 18886915 chr22 21463730 Deletion cardiovascular,head_neck,limbs U132 PMID:31801603 hg19 yes no chr22 18886915 chr22 21809185 Duplication behaviour_neurological_cognitive,head_neck,hearing_ear,nervous_system U133 PMID:31801603 hg19 yes no chr22 18895227 chr22 21463730 Duplication hearing_ear,nervous_system,neurodevelopmental U134 PMID:31801603 hg19 yes no chr22 21024880 chr22 22467906 Duplication nervous_system,neurodevelopmental U136 PMID:31801603 hg19 yes no chr22 21797812 chr22 22941426 Deletion cardiovascular,growth_abnormality,head_neck,nervous_system,skeletal_system,vision_eye U137 PMID:31801603 hg19 yes no chr22 42245763 chr22 42709334 Deletion growth_abnormality,integument,musculature,nervous_system,neurodevelopmental U138 PMID:31801603 hg19 yes no chr22 44595562 chr22 51195728 Deletion head_neck,nervous_system,neurodevelopmental,skeletal_system U139 PMID:31801603 hg19 yes no chr22 45428606 chr22 51195728 Deletion nervous_system,neurodevelopmental U140 PMID:31801603 hg19 yes no chr22 50868013 chr22 51211392 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U141 PMID:31801603 hg19 yes no chr22 50961786 chr22 51211392 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U142 PMID:31801603 hg19 yes no chr22 51149973 chr22 51195728 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U143 PMID:31801603 hg19 yes no chrX 60814 chrX 2697868 Duplication behaviour_neurological_cognitive,nervous_system,neurodevelopmental U144.1 PMID:31801603 hg19 yes no chrX 154933691 chrX 155236712 Duplication behaviour_neurological_cognitive,nervous_system,neurodevelopmental U144.2 PMID:31801603 hg19 yes no chrX 6447911 chrX 8135053 Duplication cardiovascular U145 PMID:31801603 hg19 yes no chrX 6447911 chrX 8135053 Duplication nervous_system,neurodevelopmental U146.1 PMID:31801603 hg19 yes no chrX 6451799 chrX 8135053 Duplication nervous_system,neurodevelopmental U146.2 PMID:31801603 hg19 yes no chrX 6451799 chrX 8135053 Duplication limbs,skeletal_system U147 PMID:31801603 hg19 yes no chrX 6451799 chrX 8135053 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U148 PMID:31801603 hg19 yes no chrX 6456940 chrX 8135053 Duplication nervous_system,neurodevelopmental U149 PMID:31801603 hg19 yes no chr2 50786770 chr2 51437416 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U15 PMID:31801603 hg19 yes no chrX 6456940 chrX 8135053 Duplication cardiovascular,head_neck U150 PMID:31801603 hg19 yes no chrX 99655165 chrX 99659150 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U152 PMID:31801603 hg19 yes no chrX 153171277 chrX 153626441 Duplication limbs,nervous_system,neurodevelopmental,skeletal_system U153 PMID:31801603 hg19 yes no chrX 153196094 chrX 153627297 Duplication nervous_system,neurodevelopmental U154.1 PMID:31801603 hg19 yes no chrX 153216976 chrX 153605061 Duplication nervous_system,neurodevelopmental U154.2 PMID:31801603 hg19 yes no chr2 60603888 chr2 63402212 Duplication head_neck,nervous_system,neurodevelopmental,skeletal_system U16 PMID:31801603 hg19 yes no chr2 148740833 chr2 148847007 Deletion nervous_system,neurodevelopmental U17 PMID:31801603 hg19 yes no chr2 148771763 chr2 148844875 Deletion nervous_system,neurodevelopmental U18 PMID:31801603 hg19 yes no chr2 179554305 chr2 179915438 Deletion cardiovascular,growth_abnormality U19 PMID:31801603 hg19 yes no chr1 115212572 chr1 119431014 Deletion growth_abnormality,nervous_system,neurodevelopmental U2 PMID:31801603 hg19 yes no chr2 200053196 chr2 201616442 Deletion behaviour_neurological_cognitive,head_neck,nervous_system,neurodevelopmental U20 PMID:31801603 hg19 yes no chr2 240176033 chr2 243048760 Deletion nervous_system,neurodevelopmental U21 PMID:31801603 hg19 yes no chr2 241846140 chr2 243048760 Deletion genitourinary_system,growth_abnormality,nervous_system,neurodevelopmental,reproductive_system U22.1 PMID:31801603 hg19 yes no chr16 87439169 chr16 90274695 Duplication genitourinary_system,growth_abnormality,nervous_system,neurodevelopmental,reproductive_system U22.2 PMID:31801603 hg19 yes no chr4 171082172 chr4 175828036 Deletion cardiovascular,integument,limbs U23.1 PMID:31801603 hg19 yes no chr4 171089568 chr4 175817225 Deletion cardiovascular,integument,limbs U23.2 PMID:31801603 hg19 yes no chr5 54904720 chr5 56671715 Deletion growth_abnormality,head_neck U24 PMID:31801603 hg19 yes no chr5 86619522 chr5 86686905 Deletion cardiovascular,integument,nervous_system U25 PMID:31801603 hg19 yes no chr6 87973708 chr6 94402239 Deletion nervous_system,neurodevelopmental U26 PMID:31801603 hg19 yes no chr6 148467702 chr6 148981394 Duplication growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system U27 PMID:31801603 hg19 yes no chr7 72722981 chr7 74141840 Duplication growth_abnormality,head_neck,skeletal_system U29.1 PMID:31801603 hg19 yes no chr7 72722981 chr7 74145064 Duplication growth_abnormality,head_neck,skeletal_system U29.2 PMID:31801603 hg19 yes no chr1 145101177 chr1 147826789 Deletion nervous_system,neurodevelopmental U3 PMID:31801603 hg19 yes no chr7 72722981 chr7 74141840 Deletion growth_abnormality,head_neck,nervous_system,neurodevelopmental U30 PMID:31801603 hg19 yes no chr7 73150511 chr7 73753250 Deletion cardiovascular U32 PMID:31801603 hg19 yes no chr8 164984 chr8 6329410 Deletion cardiovascular,genitourinary_system,urinary_system U34 PMID:31801603 hg19 yes no chr8 8105359 chr8 11898209 Deletion behaviour_neurological_cognitive,cardiovascular,nervous_system,neurodevelopmental U35 PMID:31801603 hg19 yes no chr8 100123356 chr8 100339633 Deletion head_neck,musculature,nervous_system,neurodevelopmental U37 PMID:31801603 hg19 yes no chr8 138612206 chr8 146293414 Duplication nervous_system,neurodevelopmental U38 PMID:31801603 hg19 yes no chr8 145030797 chr8 146112746 Duplication behaviour_neurological_cognitive,head_neck,nervous_system,neurodevelopmental U39 PMID:31801603 hg19 yes no chr1 145101177 chr1 147826789 Deletion nervous_system,neurodevelopmental U4 PMID:31801603 hg19 yes no chr9 3197716 chr9 3239762 Deletion nervous_system,neurodevelopmental U40 PMID:31801603 hg19 yes no chr9 35497219 chr9 38382340 Deletion nervous_system,neurodevelopmental U41 PMID:31801603 hg19 yes no chr9 92067803 chr9 98858735 Duplication growth_abnormality,nervous_system,neurodevelopmental U42 PMID:31801603 hg19 yes no chr9 96052179 chr9 98211720 Deletion genitourinary_system,head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system,urinary_system U43 PMID:31801603 hg19 yes no chr9 105904199 chr9 114366248 Deletion endocrine,growth_abnormality,nervous_system,neurodevelopmental,vision_eye U44 PMID:31801603 hg19 yes no chr9 114960138 chr9 123886277 Deletion head_neck,nervous_system,neurodevelopmental U45 PMID:31801603 hg19 yes no chr10 13785400 chr10 20941111 Deletion nervous_system,neurodevelopmental U46 PMID:31801603 hg19 yes no chr11 76854587 chr11 76921358 Deletion nervous_system,neurodevelopmental U47 PMID:31801603 hg19 yes no chr11 118827655 chr11 120953914 Duplication behaviour_neurological_cognitive,head_neck,nervous_system,skeletal_system U48 PMID:31801603 hg19 yes no chr1 145762959 chr1 147826789 Deletion behaviour_neurological_cognitive,head_neck,nervous_system,neurodevelopmental U5 PMID:31801603 hg19 yes no chr12 49328962 chr12 49555414 Duplication genitourinary_system,head_neck,nervous_system,reproductive_system,vision_eye U50 PMID:31801603 hg19 yes no chr12 116419988 chr12 116460600 Deletion head_neck,nervous_system,neurodevelopmental U51 PMID:31801603 hg19 yes no chr13 19774848 chr13 20270925 Duplication cardiovascular,nervous_system,neurodevelopmental U52 PMID:31801603 hg19 yes no chr14 100638235 chr14 101278778 Deletion musculature,nervous_system,neurodevelopmental U53 PMID:31801603 hg19 yes no chr15 22299434 chr15 23226254 Duplication head_neck,skeletal_system U55 PMID:31801603 hg19 yes no chr15 22299434 chr15 23272733 Deletion nervous_system,neurodevelopmental U56 PMID:31801603 hg19 yes no chr15 22299434 chr15 23272733 Deletion growth_abnormality,integument,nervous_system,neurodevelopmental U57 PMID:31801603 hg19 yes no chr15 22299434 chr15 23272733 Duplication integument,nervous_system,neurodevelopmental U58 PMID:31801603 hg19 yes no chr15 22299434 chr15 28535266 Deletion nervous_system,neurodevelopmental U59 PMID:31801603 hg19 yes no chr1 146089268 chr1 147825454 Duplication head_neck,nervous_system,neurodevelopmental U6 PMID:31801603 hg19 yes no chr15 22663383 chr15 23226254 Deletion behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental U61 PMID:31801603 hg19 yes no chr15 23667412 chr15 28532120 Duplication cardiovascular,nervous_system,neurodevelopmental U64 PMID:31801603 hg19 yes no chr15 23697376 chr15 28532120 Duplication head_neck,nervous_system,neurodevelopmental U65 PMID:31801603 hg19 yes no chr15 30369914 chr15 32514341 Deletion head_neck,nervous_system,neurodevelopmental U66 PMID:31801603 hg19 yes no chr15 30369914 chr15 32514341 Deletion growth_abnormality,nervous_system,neurodevelopmental U67 PMID:31801603 hg19 yes no chr15 30611102 chr15 32833659 Duplication nervous_system,neurodevelopmental U68 PMID:31801603 hg19 yes no chr15 30657952 chr15 32514341 Deletion head_neck,nervous_system,neurodevelopmental,skeletal_system U69 PMID:31801603 hg19 yes no chr1 146089268 chr1 147826789 Deletion behaviour_neurological_cognitive,head_neck,nervous_system U7 PMID:31801603 hg19 yes no chr15 30657952 chr15 32514341 Duplication head_neck,nervous_system U70 PMID:31801603 hg19 yes no chr15 30657952 chr15 32514341 Deletion nervous_system,neurodevelopmental U71 PMID:31801603 hg19 yes no chr15 30737344 chr15 32620127 Deletion nervous_system,neurodevelopmental U72 PMID:31801603 hg19 yes no chr15 30936285 chr15 32514341 Deletion nervous_system,neurodevelopmental U73 PMID:31801603 hg19 yes no chr15 30943512 chr15 32514341 Deletion growth_abnormality,head_neck,nervous_system,neurodevelopmental U74 PMID:31801603 hg19 yes no chr15 35063868 chr15 38907041 Deletion head_neck,integument,limbs,nervous_system,neurodevelopmental,skeletal_system U75 PMID:31801603 hg19 yes no chr15 98755723 chr15 102461162 Deletion growth_abnormality,head_neck U76 PMID:31801603 hg19 yes no chr16 2049640 chr16 2116980 Deletion cardiovascular U77 PMID:31801603 hg19 yes no chr16 14968859 chr16 16306563 Duplication behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental U78 PMID:31801603 hg19 yes no chr16 14975292 chr16 16291983 Deletion nervous_system,neurodevelopmental U79 PMID:31801603 hg19 yes no chr1 146089268 chr1 148003653 Deletion nervous_system,neurodevelopmental U8 PMID:31801603 hg19 yes no chr16 14975292 chr16 16291983 Deletion growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system U80 PMID:31801603 hg19 yes no chr16 15092778 chr16 16279714 Duplication nervous_system,neurodevelopmental U81 PMID:31801603 hg19 yes no chr16 15493046 chr16 16311466 Duplication nervous_system,neurodevelopmental U82 PMID:31801603 hg19 yes no chr16 28484556 chr16 30198151 Deletion growth_abnormality,nervous_system,neurodevelopmental U83 PMID:31801603 hg19 yes no chr16 28825605 chr16 29043450 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U84 PMID:31801603 hg19 yes no chr16 28825605 chr16 29043450 Deletion head_neck,nervous_system,neurodevelopmental,skeletal_system,vision_eye U86 PMID:31801603 hg19 yes no chr16 29412503 chr16 30215621 Deletion cardiovascular,nervous_system,neurodevelopmental U87 PMID:31801603 hg19 yes no chr16 29595483 chr16 30192561 Deletion nervous_system,neurodevelopmental U88 PMID:31801603 hg19 yes no chr16 29595483 chr16 30198151 Deletion growth_abnormality,head_neck U89 PMID:31801603 hg19 yes no chr1 146501348 chr1 147825548 Deletion behaviour_neurological_cognitive,nervous_system,neurodevelopmental U9 PMID:31801603 hg19 yes no chr16 29595483 chr16 30198151 Deletion nervous_system,neurodevelopmental U90 PMID:31801603 hg19 yes no chr16 29595483 chr16 30198151 Deletion nervous_system,neurodevelopmental U91 PMID:31801603 hg19 yes no chr16 29595483 chr16 30367820 Duplication genitourinary_system,head_neck,urinary_system U92 PMID:31801603 hg19 yes no chr16 29656484 chr16 30199507 Deletion behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental U93 PMID:31801603 hg19 yes no chr16 30094180 chr16 30714273 Duplication behaviour_neurological_cognitive,nervous_system,neurodevelopmental U94.1 PMID:31801603 hg19 yes no chr16 71439049 chr16 71965196 Duplication behaviour_neurological_cognitive,nervous_system,neurodevelopmental U94.2 PMID:31801603 hg19 yes no chr16 81818860 chr16 90274695 Duplication growth_abnormality,head_neck,nervous_system,neurodevelopmental U96 PMID:31801603 hg19 yes no chr16 85009291 chr16 90163275 Duplication head_neck,nervous_system,neurodevelopmental U97 PMID:31801603 hg19 yes no chr16 87355667 chr16 87466943 Deletion nervous_system,neurodevelopmental U98 PMID:31801603 hg19 yes no chr17 8547 chr17 3393086 Deletion embryo_prenatal,limbs U99 PMID:31801603 hg19 yes no