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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146374insertion1nstd232human GRCh37.p13 chr14: 31,354,826-31,354,826 , GRCh38.p12 chr14: 30,885,620-30,885,620 COCH, LOC100506071
    nsv7144766insertion1nstd232human GRCh37.p13 chr14: 31,354,828-31,354,828 , GRCh38.p12 chr14: 30,885,622-30,885,622 COCH, LOC100506071
    nsv7093176copy number variation1nstd102humanUncertain significance GRCh37 chr14: 31,355,354-31,355,416 , GRCh38 chr14: 30,886,148-30,886,210 COCH, LOC100506071
    nsv6957819copy number variation1nstd229human GRCh38 chr14: 29,967,815-31,229,292 , GRCh37.p13 chr14: 30,437,021-31,698,498 LOC100913082, RPS6P24, 19 more genes
    nsv6946782copy number variation1nstd229human GRCh38 chr14: 30,886,313-30,889,613 , GRCh37.p13 chr14: 31,355,519-31,358,819 LOC100506071, COCH
    nsv6945891copy number variation1nstd229human GRCh38 chr14: 30,866,135-30,878,380 , GRCh37.p13 chr14: 31,335,341-31,347,586 LOC100506071, COCH
    nsv6943217copy number variation1nstd229human GRCh38 chr14: 30,887,530-30,889,574 , GRCh37.p13 chr14: 31,356,736-31,358,780 COCH, LOC100506071
    nsv6637416copy number variation1nstd102humanPathogenic GRCh37 chr14: 24,959,823-33,415,359 , GRCh38.p12 chr14: 24,490,617-32,946,153 SCFD1, RPL12P5, 94 more genes
    nsv6591606inversion1nstd223human GRCh38 chr14: 30,656,873-33,818,146 , GRCh37.p13 chr14: 31,126,079-34,287,352 ARHGAP5-AS1, RN7SL660P, 37 more genes
    nsv6481575copy number variation1nstd223human GRCh38 chr14: 30,884,511-30,885,515 , GRCh37.p13 chr14: 31,353,717-31,354,721 COCH, LOC100506071
    nsv6480815copy number variation1nstd223human GRCh38 chr14: 30,887,530-30,889,571 , GRCh37.p13 chr14: 31,356,736-31,358,777 COCH, LOC100506071
    nsv6315513copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,672-47,481,203 , GRCh38.p12 chr14: 20,043,513-47,012,000 CDH24, KLHL33, 623 more genes
    nsv6314715copy number variation1nstd102humanPathogenic GRCh37 chr14: 21,162,263-50,713,602 , GRCh38.p12 chr14: 20,694,104-50,246,884 HNRNPC, FOXG1, 616 more genes
    nsv6132586copy number variation1nstd213human GRCh37 chr14: 31,100,000-31,670,001 , GRCh38.p12 chr14: 30,630,794-31,200,795 AP4S1, UBE2CP1, 12 more genes
    nsv5506311copy number variation1nstd206human GRCh38 chr14: 30,890,766-30,892,709 , GRCh37.p13 chr14: 31,359,972-31,361,915 COCH, STRN3
    nsv5381770copy number variation1nstd102humanPathogenic GRCh37 chr14: 27,450,705-31,529,481 , GRCh38.p12 chr14: 26,981,499-31,060,275 RPS27AP4, LINC00645, 43 more genes
    nsv4991110copy number variation1nstd200human GRCh38 chr14: 30,887,530-30,889,571 , GRCh37.p13 chr14: 31,356,736-31,358,777 COCH, LOC100506071
    nsv4685750copy number variation1nstd102humannot provided GRCh37 chr14: 20,511,672-42,881,888 , GRCh38.p12 chr14: 20,043,513-42,412,685 IGBP1P1, RAB2B, 579 more genes
    nsv4675943copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,672-44,829,030 , GRCh38.p12 chr14: 20,043,513-44,359,827 TRAJ36, SEC23A-AS1, 590 more genes
    nsv4624666copy number variation1nstd183human GRCh37 chr14: 30,782,367-31,539,196 , GRCh38.p12 chr14: 30,313,161-31,069,990 AP4S1, G2E3-AS1, 15 more genes
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