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Items: 1 to 20 of 382

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885088copy number variation1nstd209human GRCh38 chr1: 108,824,397-108,829,336 , GRCh37.p13 chr1: 109,367,019-109,371,958 AKNAD1, LOC105378891
    nsv5868921copy number variation1nstd209human GRCh38 chr1: 108,855,306-108,855,678 , GRCh37.p13 chr1: 109,397,928-109,398,300 AKNAD1, SPATA42
    nsv5827909copy number variation1nstd209human GRCh38 chr1: 108,824,442-108,829,362 , GRCh37.p13 chr1: 109,367,064-109,371,984 LOC105378891, AKNAD1
    nsv5728607mobile element insertion1nstd211human GRCh38 chr1: 108,828,934-108,828,934 , GRCh37.p13 chr1: 109,371,556-109,371,556 LOC105378891, AKNAD1
    nsv5687232mobile element insertion1nstd211human GRCh38 chr1: 108,815,362-108,815,362 , GRCh37.p13 chr1: 109,357,984-109,357,984 LOC105378891, AKNAD1
    nsv5555723mobile element insertion1nstd206human GRCh38 chr1: 108,828,934-108,828,985 , GRCh37.p13 chr1: 109,371,556-109,371,607 LOC105378891, AKNAD1
    nsv5420437copy number variation1nstd206human GRCh38 chr1: 108,817,388-108,817,456 , GRCh37.p13 chr1: 109,360,010-109,360,078 AKNAD1, LOC105378891
    nsv5419869copy number variation1nstd206human GRCh38 chr1: 108,842,219-108,891,126 , GRCh37.p13 chr1: 109,384,841-109,433,748 , SPATA42, 2 more genes
    nsv5405370mobile element insertion1nstd206human GRCh38 chr1: 108,815,362-108,815,413 , GRCh37.p13 chr1: 109,357,984-109,358,035 LOC105378891, AKNAD1
    nsv5384134copy number variation1nstd186human GRCh37 chr1: 109,367,020-109,371,958 , GRCh38.p12 chr1: 108,824,398-108,829,336 AKNAD1, LOC105378891
    nsv5384053copy number variation1nstd186human GRCh37 chr1: 109,367,020-109,371,959 , GRCh38.p12 chr1: 108,824,398-108,829,337 AKNAD1, LOC105378891
    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
    nsv5378539translocation1nstd200human GRCh38 chr1: 108,829,115-108,829,115 , GRCh38 chr1: 108,829,698-108,829,698 , GRCh37.p13 chr1: 109,372,320-109,372,320 , GRCh37.p13 chr1: 109,371,737-109,371,737 AKNAD1, LOC105378891
    nsv5298141copy number variation1nstd204human GRCh38.p13 chr1: 108,723,191-109,333,704 , GRCh37.p13 chr1: 109,265,813-109,876,326 , SARS1, 25 more genes
    nsv5284127copy number variation1nstd204human GRCh37.p13 chr1: 109,367,014-109,371,962 , GRCh38.p13 chr1: 108,824,392-108,829,340 LOC105378891, AKNAD1
    nsv5219412mobile element deletion1nstd204human GRCh37.p13 chr1: 109,360,096-109,360,433 , GRCh38.p13 chr1: 108,817,474-108,817,811 AKNAD1, LOC105378891
    nsv5218257copy number variation1nstd204human GRCh37.p13 chr1: 109,315,123-109,468,222 , GRCh38.p13 chr1: 108,772,501-108,925,600 , STXBP3, 4 more genes
    nsv5215614copy number variation1nstd204human GRCh38.p13 chr1: 108,824,501-108,873,000 , GRCh37.p13 chr1: 109,367,123-109,415,622 , AKNAD1, 2 more genes
    nsv5210545copy number variation1nstd204human GRCh38.p13 chr1: 108,827,142-108,846,169 , GRCh37.p13 chr1: 109,369,764-109,388,791 LOC105378891, AKNAD1
    nsv5206292copy number variation1nstd204human GRCh38.p13 chr1: 108,823,842-108,829,362 , GRCh37.p13 chr1: 109,366,464-109,371,984 AKNAD1, LOC105378891
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