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Items: 1 to 20 of 371

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130485insertion1nstd186human GRCh37 chr21: 45,754,399-45,754,402 , GRCh38.p12 chr21: 44,334,516-44,334,519 CFAP410
    nsv5671732insertion1nstd207human GRCh38 chr21: 44,334,517-44,334,517 , GRCh37.p13 chr21: 45,754,400-45,754,400 CFAP410
    nsv5666637insertion1nstd207human GRCh38 chr21: 44,338,932-44,338,932 , GRCh37.p13 chr21: 45,758,815-45,758,815 CFAP410
    nsv5664568insertion1nstd207human GRCh38 chr21: 44,335,931-44,335,931 , GRCh37.p13 chr21: 45,755,814-45,755,814 CFAP410
    nsv5603878copy number variation1nstd207human GRCh38 chr21: 44,335,931-44,335,982 , GRCh37.p13 chr21: 45,755,814-45,755,865 CFAP410
    nsv5595338copy number variation1nstd207human GRCh38 chr21: 44,338,862-44,338,918 , GRCh37.p13 chr21: 45,758,745-45,758,801 CFAP410
    nsv5552872copy number variation1nstd206human GRCh38 chr21: 44,332,508-44,332,565 , GRCh37.p13 chr21: 45,752,391-45,752,448 CFAP410
    nsv5542163insertion1nstd206human GRCh38 chr21: 44,334,516-44,334,519 , GRCh37.p13 chr21: 45,754,399-45,754,402 CFAP410
    nsv5381146copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,750,081-45,753,165 , GRCh38.p12 chr21: 44,330,198-44,333,282 CFAP410
    nsv5360337translocation1nstd200human GRCh38 chr21: 44,335,844-44,335,844 , GRCh38 chr21: 44,336,979-44,336,979 , GRCh37.p13 chr21: 45,756,862-45,756,862 , GRCh37.p13 chr21: 45,755,727-45,755,727 CFAP410
    nsv5321017translocation1nstd204human GRCh38.p13 chr21: 44,332,508-44,332,508 , GRCh38.p13 chr21: 44,332,565-44,332,565 , GRCh37.p13 chr21: 45,752,448-45,752,448 , GRCh37.p13 chr21: 45,752,391-45,752,391 CFAP410
    nsv5040955copy number variation1nstd200human GRCh38 chr21: 44,326,796-44,328,005 , GRCh37.p13 chr21: 45,746,679-45,747,888 PFKL, CFAP410
    nsv5038397copy number variation1nstd200human GRCh38 chr21: 44,332,469-44,603,779 , GRCh37.p13 chr21: 45,752,352-45,916,560 TSPEAR-AS2, CFAP410, 17 more genes
    nsv5037375copy number variation1nstd200human GRCh38 chr21: 44,317,350-44,334,800 , GRCh37.p13 chr21: 45,737,233-45,754,683 PFKL, CFAP410
    nsv5037124copy number variation1nstd200human GRCh38 chr21: 44,264,657-44,404,143 , GRCh37.p13 chr21: 45,684,540-45,824,026 CFAP410, AIRE, 2 more genes
    nsv5030740copy number variation1nstd200human GRCh38 chr21: 44,334,079-44,334,156 , GRCh37.p13 chr21: 45,753,962-45,754,039 CFAP410
    nsv4865887copy number variation1nstd200human GRCh37 chr21: 45,737,233-45,754,683 , GRCh38.p12 chr21: 44,317,350-44,334,800 PFKL, CFAP410
    nsv4863442copy number variation1nstd200human GRCh37 chr21: 45,755,727-45,756,862 , GRCh38.p12 chr21: 44,335,844-44,336,979 CFAP410
    nsv4863441copy number variation1nstd200human GRCh37 chr21: 45,753,962-45,754,039 , GRCh38.p12 chr21: 44,334,079-44,334,156 CFAP410
    nsv4863434copy number variation1nstd200human GRCh37 chr21: 45,684,540-45,824,026 , GRCh38.p12 chr21: 44,264,657-44,404,143 TRPM2, PFKL, 2 more genes
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