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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5453454copy number variation1nstd206human GRCh38 chr2: 218,410,430-218,424,877 , GRCh37.p13 chr2: 219,275,153-219,289,600 VIL1
    nsv5442328copy number variation1nstd206human GRCh38 chr2: 218,448,033-218,448,113 , GRCh37.p13 chr2: 219,312,756-219,312,836 VIL1
    nsv5440116copy number variation1nstd206human GRCh38 chr2: 218,294,373-218,429,520 , GRCh37.p13 chr2: 219,159,096-219,294,243 SLC11A1, MIR6810, 10 more genes
    nsv5320301copy number variation1nstd204human GRCh38.p13 chr2: 218,413,622-218,431,222 , GRCh37.p13 chr2: 219,278,345-219,295,945 VIL1
    nsv5210465copy number variation1nstd204human GRCh38.p13 chr2: 218,413,701-218,431,200 , GRCh37.p13 chr2: 219,278,424-219,295,923 VIL1
    nsv5206859copy number variation1nstd204human GRCh38.p13 chr2: 218,424,323-218,425,622 , GRCh37.p13 chr2: 219,289,046-219,290,345 VIL1
    nsv5205806copy number variation1nstd204human GRCh38.p13 chr2: 218,240,201-218,420,200 , GRCh37.p13 chr2: 219,104,924-219,284,923 CATIP, CATIP-AS1, 16 more genes
    nsv5203191copy number variation1nstd204human GRCh38.p13 chr2: 218,413,583-218,433,086 , GRCh37.p13 chr2: 219,278,306-219,297,809 VIL1
    nsv5073696mobile element insertion1nstd203human GRCh38 chr2: 218,450,542-218,450,557 , GRCh37.p13 chr2: 219,315,265-219,315,280 VIL1, USP37
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916907copy number variation1nstd200human GRCh38 chr2: 218,436,519-218,439,787 , GRCh37.p13 chr2: 219,301,242-219,304,510 VIL1
    nsv4916906copy number variation1nstd200human GRCh38 chr2: 218,415,419-218,418,013 , GRCh37.p13 chr2: 219,280,142-219,282,736 VIL1
    nsv4795999copy number variation1nstd200human GRCh37 chr2: 219,301,242-219,304,510 , GRCh38.p12 chr2: 218,436,519-218,439,787 VIL1
    nsv4795998copy number variation1nstd200human GRCh37 chr2: 219,280,142-219,282,736 , GRCh38.p12 chr2: 218,415,419-218,418,013 VIL1
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4583012copy number variation1nstd183human GRCh37 chr2: 219,275,142-219,289,564 , GRCh38.p12 chr2: 218,410,419-218,424,841 VIL1
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
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