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Items: 1 to 20 of 384

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5714445mobile element insertion1nstd211human GRCh38 chr16: 48,373,934-48,373,934 , GRCh37.p13 chr16: 48,407,845-48,407,845 SIAH1
    nsv5713992mobile element insertion1nstd211human GRCh38 chr16: 48,442,962-48,442,962 , GRCh37.p13 chr16: 48,476,873-48,476,873 SIAH1
    nsv5560600mobile element insertion1nstd206human GRCh38 chr16: 48,373,944-48,373,959 , GRCh37.p13 chr16: 48,407,855-48,407,870 SIAH1
    nsv5523195copy number variation1nstd206human GRCh38 chr16: 48,401,528-48,401,638 , GRCh37.p13 chr16: 48,435,439-48,435,549 SIAH1
    nsv5520748copy number variation1nstd206human GRCh38 chr16: 48,437,938-48,438,622 , GRCh37.p13 chr16: 48,471,849-48,472,533 SIAH1
    nsv5517251copy number variation1nstd206human GRCh38 chr16: 48,381,655-48,383,071 , GRCh37.p13 chr16: 48,415,566-48,416,982 SIAH1
    nsv5514146copy number variation1nstd206human GRCh38 chr16: 48,399,745-48,406,516 , GRCh37.p13 chr16: 48,433,656-48,440,427 SIAH1
    nsv5418573mobile element insertion1nstd206human GRCh38 chr16: 48,442,962-48,443,013 , GRCh37.p13 chr16: 48,476,873-48,476,924 SIAH1
    nsv5191649mobile element insertion1nstd203human GRCh38 chr16: 48,373,939-48,373,948 , GRCh37.p13 chr16: 48,407,850-48,407,859 SIAH1
    nsv5187114mobile element insertion1nstd203human GRCh38 chr16: 48,373,934-48,373,944 , GRCh37.p13 chr16: 48,407,845-48,407,855 SIAH1
    nsv5032241inversion1nstd200human GRCh38 chr16: 48,352,991-48,353,757 , GRCh37.p13 chr16: 48,386,902-48,387,668 LONP2, SIAH1
    nsv5004012copy number variation1nstd200human GRCh38 chr16: 48,444,517-48,445,813 , GRCh37.p13 chr16: 48,478,428-48,479,724 SIAH1
    nsv5004011copy number variation1nstd200human GRCh38 chr16: 48,390,845-48,395,876 , GRCh37.p13 chr16: 48,424,756-48,429,787 SIAH1
    nsv5004010copy number variation1nstd200human GRCh38 chr16: 48,383,194-48,384,049 , GRCh37.p13 chr16: 48,417,105-48,417,960 SIAH1
    nsv5004009copy number variation1nstd200human GRCh38 chr16: 48,355,354-48,355,470 , GRCh37.p13 chr16: 48,389,265-48,389,381 LONP2, SIAH1
    nsv4857018copy number variation1nstd200human GRCh37 chr16: 48,472,246-48,473,064 , GRCh38.p12 chr16: 48,438,335-48,439,153 SIAH1
    nsv4857017copy number variation1nstd200human GRCh37 chr16: 48,455,419-48,456,223 , GRCh38.p12 chr16: 48,421,508-48,422,312 SIAH1
    nsv4857016copy number variation1nstd200human GRCh37 chr16: 48,417,105-48,417,960 , GRCh38.p12 chr16: 48,383,194-48,384,049 SIAH1
    nsv4857015copy number variation1nstd200human GRCh37 chr16: 48,389,265-48,389,381 , GRCh38.p12 chr16: 48,355,354-48,355,470 SIAH1, LONP2
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