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Items: 3

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    Number of Variants: 3

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6310584copy number variation1nstd102humanPathogenic GRCh37 chr1: 120,311,344-120,311,467 , GRCh38.p12 chr1: 119,768,721-119,768,844 HMGCS2
    nsv4682089copy number variation1nstd102humanPathogenic GRCh37 chr1: 120,311,344-120,311,487 , GRCh38.p12 chr1: 119,768,721-119,768,864 HMGCS2
    nsv4454474copy number variation1nstd102humanPathogenic GRCh37 chr1: 120,311,364-120,311,467 , GRCh38 chr1: 119,768,741-119,768,844 HMGCS2
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