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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5979119insertion1nstd209human GRCh38 chr22: 38,837,845-38,837,845 , GRCh37.p13 chr22: 39,233,850-39,233,850 NPTXR
    nsv5966903copy number variation1nstd209human GRCh38 chr22: 38,834,073-38,834,126 , GRCh37.p13 chr22: 39,230,078-39,230,131 NPTXR
    nsv5671925insertion1nstd207human GRCh38 chr22: 38,837,845-38,837,845 , GRCh37.p13 chr22: 39,233,850-39,233,850 NPTXR
    nsv5604120copy number variation1nstd207human GRCh38 chr22: 38,834,073-38,834,126 , GRCh37.p13 chr22: 39,230,078-39,230,131 NPTXR
    nsv5541154copy number variation1nstd206human GRCh38 chr22: 38,815,586-38,816,997 , GRCh37.p13 chr22: 39,211,591-39,213,002 NPTXR
    nsv5535956copy number variation1nstd206human GRCh38 chr22: 38,814,133-38,821,191 , GRCh37.p13 chr22: 39,210,138-39,217,196 NPTXR
    nsv5360576translocation1nstd200human GRCh38 chr22: 38,818,433-38,818,433 , GRCh38 chr22: 38,818,376-38,818,376 , GRCh37.p13 chr22: 39,214,381-39,214,381 , GRCh37.p13 chr22: 39,214,438-39,214,438 NPTXR
    nsv5039734copy number variation1nstd200human GRCh38 chr22: 38,831,650-38,835,646 , GRCh37.p13 chr22: 39,227,655-39,231,651 NPTXR
    nsv5037867copy number variation1nstd200human GRCh38 chr22: 38,836,993-38,838,023 , GRCh37.p13 chr22: 39,232,998-39,234,028 NPTXR
    nsv5037160copy number variation1nstd200human GRCh38 chr22: 38,837,036-38,838,711 , GRCh37.p13 chr22: 39,233,041-39,234,716 NPTXR
    nsv5036384copy number variation1nstd200human GRCh38 chr22: 38,825,870-38,887,347 , GRCh37.p13 chr22: 39,221,875-39,283,352 CBX6, LOC105373032, 1 more genes
    nsv4884461copy number variation1nstd200human GRCh37 chr22: 39,233,041-39,234,716 , GRCh38.p12 chr22: 38,837,036-38,838,711 NPTXR
    nsv4883986copy number variation1nstd200human GRCh37 chr22: 39,227,655-39,231,651 , GRCh38.p12 chr22: 38,831,650-38,835,646 NPTXR
    nsv4879375copy number variation1nstd200human GRCh37 chr22: 39,221,875-39,283,352 , GRCh38.p12 chr22: 38,825,870-38,887,347 NPTXR, LOC105373032, 1 more genes
    nsv4745847copy number variation1nstd199human GRCh37 chr22: 39,230,074-39,230,129 , GRCh38.p12 chr22: 38,834,069-38,834,124 NPTXR
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4667738copy number variation1nstd186human GRCh37 chr22: 39,211,560-39,213,005 , GRCh38.p12 chr22: 38,815,555-38,817,000 NPTXR
    nsv4630779copy number variation1nstd183human GRCh37 chr22: 39,211,560-39,213,005 , GRCh38.p12 chr22: 38,815,555-38,817,000 NPTXR
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