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Items: 1 to 20 of 273

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5961629insertion1nstd209human GRCh38 chr2: 165,766,661-165,766,661 , GRCh37.p13 chr2: 166,623,171-166,623,171 GALNT3
    nsv5673293copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,605,291-167,168,266 , GRCh38.p12 chr2: 165,748,781-166,311,756 GALNT3, SCN1A, 7 more genes
    nsv5618251insertion1nstd207human GRCh38 chr2: 165,766,661-165,766,661 , GRCh37.p13 chr2: 166,623,171-166,623,171 GALNT3
    nsv5564252copy number variation5nstd102humanPathogenic GRCh37 chr2: 165,946,660-167,168,266 , GRCh38.p12 chr2: 165,090,150-166,311,756 TTC21B-AS1, RN7SKP152, 11 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5559495sequence alteration1nstd206human GRCh38 chr2: 165,792,956-165,792,962 , GRCh37.p13 chr2: 166,649,466-166,649,472 GALNT3
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5544938insertion1nstd206human GRCh38 chr2: 165,792,956-165,792,956 , GRCh37.p13 chr2: 166,649,466-166,649,466 GALNT3
    nsv5444637copy number variation1nstd206human GRCh38 chr2: 165,780,622-165,783,379 , GRCh37.p13 chr2: 166,637,132-166,639,889 GALNT3
    nsv5436029copy number variation1nstd206human GRCh38 chr2: 165,769,137-165,769,233 , GRCh37.p13 chr2: 166,625,647-166,625,743 GALNT3
    nsv5350955translocation1nstd200human GRCh38 chr2: 165,792,956-165,792,956 , GRCh38 chr2: 165,797,652-165,797,652 , GRCh37.p13 chr2: 166,654,162-166,654,162 , GRCh37.p13 chr2: 166,649,466-166,649,466 GALNT3
    nsv5350954translocation1nstd200human GRCh38 chr2: 165,783,379-165,783,379 , GRCh38 chr2: 165,780,622-165,780,622 , GRCh37.p13 chr2: 166,637,132-166,637,132 , GRCh37.p13 chr2: 166,639,889-166,639,889 GALNT3
    nsv5327227inversion1nstd204human GRCh37.p13 chr2: 151,300,232-168,612,803 , GRCh38.p13 chr2: 150,443,718-167,756,293 , RND3, 198 more genes
    nsv5300333copy number variation1nstd204human GRCh38.p13 chr2: 165,780,621-165,783,379 , GRCh37.p13 chr2: 166,637,131-166,639,889 GALNT3
    nsv5219198copy number variation1nstd204human GRCh38.p13 chr2: 165,780,301-165,785,900 , GRCh37.p13 chr2: 166,636,811-166,642,410 GALNT3
    nsv5207121copy number variation1nstd204human GRCh38.p13 chr2: 165,779,701-165,783,400 , GRCh37.p13 chr2: 166,636,211-166,639,910 GALNT3
    nsv5203839copy number variation1nstd204human GRCh38.p13 chr2: 165,780,607-165,783,363 , GRCh37.p13 chr2: 166,637,117-166,639,873 GALNT3
    nsv5200284copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,903,672-166,666,206 , GRCh38.p12 chr2: 165,047,162-165,809,696 GALNT3, SCN2A, 3 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
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