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Items: 1 to 20 of 265

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5428217copy number variation1nstd206human GRCh38 chr1: 113,705,236-113,706,148 , GRCh37.p13 chr1: 114,247,858-114,248,770 PHTF1
    nsv5424255copy number variation1nstd206human GRCh38 chr1: 113,699,005-113,723,213 , GRCh37.p13 chr1: 114,241,627-114,265,835 PHTF1, RPS2P14
    nsv5419406copy number variation1nstd206human GRCh38 chr1: 113,710,748-113,710,896 , GRCh37.p13 chr1: 114,253,370-114,253,518 PHTF1
    nsv5419082copy number variation1nstd206human GRCh38 chr1: 113,755,920-113,757,063 , GRCh37.p13 chr1: 114,298,542-114,299,685 PHTF1
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5363374translocation1nstd200human GRCh38 chr1: 113,756,984-113,756,984 , GRCh38 chr1: 113,756,007-113,756,007 , GRCh37.p13 chr1: 114,298,629-114,298,629 , GRCh37.p13 chr1: 114,299,606-114,299,606 PHTF1
    nsv5185704mobile element insertion1nstd203human GRCh38 chr1: 113,751,966-113,751,977 , GRCh37.p13 chr1: 114,294,588-114,294,599 PHTF1
    nsv5076428mobile element insertion1nstd203human GRCh38 chr1: 113,715,801-113,715,801 , GRCh37.p13 chr1: 114,258,423-114,258,423 PHTF1
    nsv5072951mobile element insertion1nstd203human GRCh38 chr1: 113,701,824-113,701,859 , GRCh37.p13 chr1: 114,244,446-114,244,481 PHTF1
    nsv5070777mobile element insertion1nstd203human GRCh38 chr1: 113,715,783-113,715,783 , GRCh37.p13 chr1: 114,258,405-114,258,405 PHTF1
    nsv5070446mobile element insertion1nstd203human GRCh38 chr1: 113,715,819-113,715,819 , GRCh37.p13 chr1: 114,258,441-114,258,441 PHTF1
    nsv5067711mobile element insertion1nstd203human GRCh38 chr1: 113,715,648-113,715,680 , GRCh37.p13 chr1: 114,258,270-114,258,302 PHTF1
    nsv5065475mobile element insertion1nstd203human GRCh38 chr1: 113,715,814-113,715,814 , GRCh37.p13 chr1: 114,258,436-114,258,436 PHTF1
    nsv5061308mobile element insertion1nstd203human GRCh38 chr1: 113,715,782-113,715,782 , GRCh37.p13 chr1: 114,258,404-114,258,404 PHTF1
    nsv5060483mobile element insertion1nstd203human GRCh38 chr1: 113,701,826-113,701,859 , GRCh37.p13 chr1: 114,244,448-114,244,481 PHTF1
    nsv4894434copy number variation1nstd200human GRCh38 chr1: 113,686,802-113,748,588 , GRCh37.p13 chr1: 114,229,424-114,291,210 RPS2P14, PHTF1
    nsv4890867copy number variation1nstd200human GRCh38 chr1: 113,759,149-113,761,258 , GRCh37.p13 chr1: 114,301,771-114,303,880 PHTF1, RSBN1
    nsv4890866copy number variation1nstd200human GRCh38 chr1: 113,750,620-113,756,895 , GRCh37.p13 chr1: 114,293,242-114,299,517 PHTF1
    nsv4890865copy number variation1nstd200human GRCh38 chr1: 113,730,102-113,745,498 , GRCh37.p13 chr1: 114,272,724-114,288,120 PHTF1
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