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Items: 1 to 20 of 291

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885824copy number variation1nstd209human GRCh38 chr1: 204,491,269-204,505,312 , GRCh37.p13 chr1: 204,460,397-204,474,440 PIK3C2B, TRK-TTT3-1, 1 more genes
    nsv5829163copy number variation1nstd209human GRCh38 chr1: 204,477,590-204,491,278 , GRCh37.p13 chr1: 204,446,718-204,460,406 PIK3C2B
    nsv5621063insertion1nstd207human GRCh38 chr1: 204,471,093-204,471,093 , GRCh37.p13 chr1: 204,440,221-204,440,221 PIK3C2B
    nsv5620355insertion1nstd207human GRCh38 chr1: 204,471,058-204,471,058 , GRCh37.p13 chr1: 204,440,186-204,440,186 PIK3C2B
    nsv5616262insertion1nstd207human GRCh38 chr1: 204,471,693-204,471,693 , GRCh37.p13 chr1: 204,440,821-204,440,821 PIK3C2B
    nsv5605278insertion1nstd207human GRCh38 chr1: 204,471,668-204,471,668 , GRCh37.p13 chr1: 204,440,796-204,440,796 PIK3C2B
    nsv5571069copy number variation1nstd207human GRCh38 chr1: 204,471,058-204,471,257 , GRCh37.p13 chr1: 204,440,186-204,440,385 PIK3C2B
    nsv5569227copy number variation1nstd207human GRCh38 chr1: 204,471,058-204,471,157 , GRCh37.p13 chr1: 204,440,186-204,440,285 PIK3C2B
    nsv5568724copy number variation1nstd207human GRCh38 chr1: 204,471,058-204,471,607 , GRCh37.p13 chr1: 204,440,186-204,440,735 PIK3C2B
    nsv5383773copy number variation1nstd186human GRCh37 chr1: 204,440,217-204,440,815 , GRCh38.p12 chr1: 204,471,089-204,471,687 PIK3C2B
    nsv5383678copy number variation1nstd186human GRCh37 chr1: 204,440,318-204,440,727 , GRCh38.p12 chr1: 204,471,190-204,471,599 PIK3C2B
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5073458mobile element insertion1nstd203human GRCh38 chr1: 204,470,892-204,470,906 , GRCh37.p13 chr1: 204,440,020-204,440,034 PIK3C2B
    nsv4904269copy number variation1nstd200human GRCh38 chr1: 204,305,027-204,429,169 , GRCh37.p13 chr1: 204,274,155-204,398,297 PLEKHA6, PIK3C2B, 3 more genes
    nsv4891680copy number variation1nstd200human GRCh38 chr1: 204,471,087-204,471,708 , GRCh37.p13 chr1: 204,440,215-204,440,836 PIK3C2B
    nsv4891679copy number variation1nstd200human GRCh38 chr1: 204,424,691-204,443,774 , GRCh37.p13 chr1: 204,393,819-204,412,902 PIK3C2B
    nsv4789315copy number variation1nstd200human GRCh37 chr1: 204,440,316-204,440,727 , GRCh38.p12 chr1: 204,471,188-204,471,599 PIK3C2B
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4748537copy number variation1nstd199human GRCh37 chr1: 204,440,190-204,440,290 , GRCh38.p12 chr1: 204,471,062-204,471,162 PIK3C2B
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