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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5690280mobile element insertion1nstd211human GRCh38 chr2: 186,827,921-186,827,921 , GRCh37.p13 chr2: 187,692,648-187,692,648 ZSWIM2
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5438031copy number variation1nstd206human GRCh38 chr2: 186,820,554-186,833,661 , GRCh37.p13 chr2: 187,685,281-187,698,388 ZSWIM2
    nsv5399993mobile element insertion1nstd206human GRCh38 chr2: 186,827,921-186,827,972 , GRCh37.p13 chr2: 187,692,648-187,692,699 ZSWIM2
    nsv5217264copy number variation1nstd204human GRCh38.p13 chr2: 186,844,201-186,848,500 , GRCh37.p13 chr2: 187,708,928-187,713,227 ZSWIM2
    nsv5211558copy number variation1nstd204human GRCh38.p13 chr2: 186,837,301-186,847,800 , GRCh37.p13 chr2: 187,702,028-187,712,527 ZSWIM2
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    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
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4595195copy number variation1nstd183human GRCh37 chr2: 187,709,359-187,712,646 , GRCh38.p12 chr2: 186,844,632-186,847,919 ZSWIM2
    nsv4595194copy number variation1nstd183human GRCh37 chr2: 187,709,217-187,709,624 , GRCh38.p12 chr2: 186,844,490-186,844,897 ZSWIM2
    nsv4595193copy number variation1nstd183human GRCh37 chr2: 187,697,605-187,698,848 , GRCh38.p12 chr2: 186,832,878-186,834,121 ZSWIM2
    nsv4582962copy number variation1nstd183human GRCh37 chr2: 187,692,407-187,693,208 , GRCh38.p12 chr2: 186,827,680-186,828,481 ZSWIM2
    nsv4453528copy number variation1nstd102humanUncertain significance GRCh37 chr2: 186,861,444-188,658,263 , GRCh38.p12 chr2: 185,996,717-187,793,536 RPL23AP35, IMPDH1P7, 15 more genes
    nsv4452712copy number variation1nstd102humanUncertain significance GRCh37 chr2: 186,234,826-188,972,311 , GRCh38.p12 chr2: 185,370,099-188,107,584 LOC100420895, FSIP2-AS1, 25 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4436425copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,356,601-188,906,835 , GRCh38.p12 chr2: 185,491,874-188,042,108 CALCRL-AS1, RNU6-989P, 24 more genes
    nsv4325740inversion1nstd166human GRCh37.p13 chr2: 184,247,457-188,122,644 , GRCh38.p12 chr2: 183,382,729-187,257,917 , ZNF804A, 33 more genes
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