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Items: 1 to 20 of 184

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6119427copy number variation1nstd186human GRCh37 chr1: 120,163,526-120,163,594 , GRCh38.p12 chr1: 119,620,903-119,620,971 ZNF697
    nsv5872597copy number variation1nstd209human GRCh38 chr1: 119,620,899-119,620,970 , GRCh37.p13 chr1: 120,163,522-120,163,593 ZNF697
    nsv5569742copy number variation1nstd207human GRCh38 chr1: 119,620,899-119,620,970 , GRCh37.p13 chr1: 120,163,522-120,163,593 ZNF697
    nsv5419572copy number variation1nstd206human GRCh38 chr1: 119,620,903-119,620,971 , GRCh37.p13 chr1: 120,163,526-120,163,594 ZNF697
    nsv5343239translocation1nstd200human GRCh37 chr1: 120,129,008-120,129,008 , GRCh37 chr1: 120,162,005-120,162,005 , GRCh38.p12 chr1: 119,619,382-119,619,382 , GRCh38.p12 chr1: 119,586,385-119,586,385 ZNF697
    nsv5328562translocation1nstd204human GRCh38.p13 chr1: 119,619,382-119,619,382 , GRCh38.p13 chr1: 119,586,385-119,586,385 , GRCh37.p13 chr1: 120,129,008-120,129,008 , GRCh37.p13 chr1: 120,162,005-120,162,005 ZNF697
    nsv5213544copy number variation1nstd204human GRCh38.p13 chr1: 119,616,735-119,619,393 , GRCh37.p13 chr1: 120,159,358-120,162,016 ZNF697
    nsv5166208mobile element insertion1nstd203human GRCh38 chr1: 119,626,425-119,626,438 , GRCh37.p13 chr1: 120,169,048-120,169,061 ZNF697
    nsv4891028copy number variation1nstd200human GRCh38 chr1: 119,618,953-119,622,709 , GRCh37.p13 chr1: 120,161,576-120,165,332 ZNF697
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4673945copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,836,834-120,289,623 , GRCh38.p12 chr1: 119,294,211-119,747,000 GAPDHP58, HSD3BP2, 21 more genes
    nsv4459215mobile element insertion1nstd166human GRCh37.p13 chr1: 120,183,473-120,183,473 , GRCh38.p12 chr1: 119,640,850-119,640,850 ZNF697
    nsv4458906mobile element insertion1nstd166human GRCh37.p13 chr1: 120,163,805-120,163,805 , GRCh38.p12 chr1: 119,621,182-119,621,182 ZNF697
    nsv4453677copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,425,395-120,527,495 , GRCh38.p12 chr1: 118,882,772-119,984,872 HSD3B2, GAPDHP23, 36 more genes
    nsv4432933copy number variation1nstd172human GRCh37.p13 chr1: 120,165,038-120,166,231 , GRCh38.p12 chr1: 119,622,415-119,623,608 ZNF697
    nsv4408000copy number variation1nstd174human GRCh37 chr1: 120,091,427-120,161,787 , GRCh38.p12 chr1: 119,548,804-119,619,164 ZNF697, HSD3BP4, 4 more genes
    nsv4058134copy number variation1nstd166human GRCh37.p13 chr1: 120,107,526-120,184,849 , GRCh38.p12 chr1: 119,564,903-119,642,226 GAPDHP33, ZNF697, 3 more genes
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