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Items: 1 to 20 of 209

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098844copy number variation1nstd102humanUncertain significance GRCh37 chr2: 65,296,579-71,305,638 , GRCh38.p12 chr2: 65,069,445-71,078,508 SNRNP27, TEX261, 121 more genes
    nsv6674080copy number variation1nstd229human GRCh38 chr2: 68,366,101-68,368,300 , GRCh37.p13 chr2: 68,593,233-68,595,432 LOC101927723, PLEK
    nsv6672448copy number variation1nstd229human GRCh38 chr2: 68,354,039-68,379,995 , GRCh37.p13 chr2: 68,581,171-68,607,127 PLEK, LOC101927723
    nsv6664291copy number variation1nstd229human GRCh38 chr2: 68,374,009-68,380,532 , GRCh37.p13 chr2: 68,601,141-68,607,664 PLEK
    nsv6661610copy number variation1nstd229human GRCh38 chr2: 68,397,801-68,411,000 , GRCh37.p13 chr2: 68,624,933-68,638,132 PLEK
    nsv6661420copy number variation1nstd229human GRCh38 chr2: 68,352,913-68,364,636 , GRCh37.p13 chr2: 68,580,045-68,591,768 LOC101927723, PLEK
    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
    nsv6628394copy number variation1nstd224human GRCh37 chr2: 68,593,134-68,671,494 , GRCh38.p12 chr2: 68,366,002-68,444,362 PLEK, LOC101927723
    nsv6628393copy number variation1nstd224human GRCh37 chr2: 68,553,195-68,624,260 , GRCh38.p12 chr2: 68,326,063-68,397,128 PLEK, LOC101927723, 1 more genes
    nsv6628335copy number variation1nstd224human GRCh37 chr2: 68,573,781-68,602,859 , GRCh38.p12 chr2: 68,346,649-68,375,727 PLEK, LOC101927723
    nsv6354611copy number variation1nstd223human GRCh38 chr2: 68,322,440-68,400,643 , GRCh37.p13 chr2: 68,549,572-68,627,775 LOC102724389, LOC101927723, 1 more genes
    nsv6349100copy number variation1nstd223human GRCh38 chr2: 68,365,996-68,372,552 , GRCh37.p13 chr2: 68,593,128-68,599,684 LOC101927723, PLEK
    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
    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
    nsv6112753copy number variation1nstd102humanUncertain significance GRCh37 chr2: 68,474,704-68,679,298 , GRCh38.p12 chr2: 68,247,572-68,452,166 PPP3R1, WDR4P2, 5 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
    nsv5360749translocation1nstd200human GRCh38 chr2: 68,374,923-68,374,923 , GRCh38 chr2: 68,374,854-68,374,854 , GRCh37.p13 chr2: 68,602,055-68,602,055 , GRCh37.p13 chr2: 68,601,986-68,601,986 PLEK
    nsv5297711copy number variation1nstd204human GRCh37.p13 chr2: 68,594,925-68,595,054 , GRCh38.p13 chr2: 68,367,793-68,367,922 PLEK, LOC101927723
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