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Items: 1 to 20 of 112

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7050707inversion1nstd229human GRCh38 chr2: 49,559,122-58,358,849 , GRCh37.p13 chr2: 49,786,260-58,585,984 CDPF1P1, MIR3682, 86 more genes
    nsv7050246inversion1nstd229human GRCh38 chr2: 55,785,821-56,093,334 , GRCh37.p13 chr2: 56,012,956-56,320,469 MIR217, LINC01813, 7 more genes
    nsv6667850copy number variation1nstd229human GRCh38 chr2: 55,691,620-56,076,078 , GRCh37.p13 chr2: 55,918,755-56,303,213 MIR217HG, EFEMP1, 9 more genes
    nsv6667398copy number variation1nstd229human GRCh38 chr2: 55,984,924-56,017,797 , GRCh37.p13 chr2: 56,212,059-56,244,932 MIR216B, MIR216A, 2 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6627893copy number variation1nstd224human GRCh37 chr2: 55,420,825-56,896,299 , GRCh38.p12 chr2: 55,193,689-56,669,164 RPS27A, PNPT1, 26 more genes
    nsv6549897inversion1nstd223human GRCh38 chr2: 55,785,820-56,093,334 , GRCh37.p13 chr2: 56,012,955-56,320,469 EFEMP1, MIR216A, 7 more genes
    nsv6341182copy number variation1nstd223human GRCh38 chr2: 55,691,620-56,076,077 , GRCh37.p13 chr2: 55,918,755-56,303,212 LOC112268416, MIR217, 9 more genes
    nsv6337084copy number variation1nstd223human GRCh38 chr2: 56,000,437-56,001,071 , GRCh37.p13 chr2: 56,227,572-56,228,206 LOC105374690, MIR217HG, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 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
    nsv6313860copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,588,867-56,935,857 , GRCh38.p12 chr2: 55,361,731-56,708,722 MIR216A, LOC112268416, 21 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv6134356copy number variation1nstd213human GRCh37 chr2: 56,150,000-56,250,001 , GRCh38.p12 chr2: 55,922,865-56,022,866 EFEMP1, MIR216A, 5 more genes
    nsv5968604inversion1nstd209human GRCh38 chr2: 49,436,021-59,087,697 , GRCh37.p13 chr2: 49,663,159-59,314,832 , ACYP2, 95 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
    nsv5030738inversion1nstd200human GRCh38 chr2: 53,702,002-58,642,705 , GRCh37.p13 chr2: 53,929,139-58,869,840 , LINC01122, 71 more genes
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4685623copy number variation1nstd102humannot provided GRCh37 chr2: 56,141,953-56,942,624 , GRCh38.p12 chr2: 55,914,818-56,715,489 LINC01813, MIR216B, 10 more genes
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