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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096367copy number variation1nstd102humanUncertain significance GRCh37 chr2: 136,545,894-136,875,630 , GRCh38.p12 chr2: 135,788,324-136,118,060 DARS1-AS1, LCT, 5 more genes
    nsv7095856copy number variation1nstd102humanUncertain significance GRCh37 chr2: 135,809,878-136,875,630 , GRCh38.p12 chr2: 135,052,308-136,118,060 G3BP1P1, UBXN4, 14 more genes
    nsv6696770copy number variation1nstd229human GRCh38 chr2: 135,991,827-136,001,507 , GRCh37.p13 chr2: 136,749,397-136,759,077 DARS1-AS1
    nsv6696499copy number variation1nstd229human GRCh38 chr2: 136,004,267-136,007,768 , GRCh37.p13 chr2: 136,761,837-136,765,338 DARS1-AS1
    nsv6694307copy number variation1nstd229human GRCh38 chr2: 135,750,511-136,163,087 , GRCh37.p13 chr2: 136,508,081-136,920,657 CXCR4, LCT-AS1, 6 more genes
    nsv6679692copy number variation1nstd229human GRCh38 chr2: 128,625,642-138,426,614 , GRCh37.p13 chr2: 129,383,216-139,184,184 MTND4P27, LOC646674, 194 more genes
    nsv6353082copy number variation1nstd223human GRCh38 chr2: 135,750,511-136,163,087 , GRCh37.p13 chr2: 136,508,081-136,920,657 DARS1, LCT, 6 more genes
    nsv6343109copy number variation1nstd223human GRCh38 chr2: 128,625,639-138,426,614 , GRCh37.p13 chr2: 129,383,213-139,184,184 CYP4F30P, CCDC74B, 194 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290867copy number variation1nstd102humanPathogenic GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060 RNU6-675P, RNU6-1049P, 300 more genes
    nsv6134495copy number variation1nstd213human GRCh37 chr2: 135,690,000-136,890,001 , GRCh38.p12 chr2: 134,932,430-136,132,431 CCNT2, DARS1, 16 more genes
    nsv6134420copy number variation1nstd213human GRCh37 chr2: 117,140,000-144,230,001 , GRCh38.p12 chr2: 116,382,424-143,472,432 BIN1, CCNT2, 382 more genes
    nsv5831315copy number variation2nstd209human GRCh38 chr2: 135,983,100-135,984,199 , GRCh37.p13 chr2: 136,740,670-136,741,769 DARS1-AS1, DARS1
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5381338copy number variation1nstd102humanPathogenic GRCh37 chr2: 136,473,383-152,727,396 , GRCh38.p12 chr2: 135,715,813-151,870,882 YY1P2, SPOPL, 156 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
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