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Items: 2

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    Number of Variants: 2

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6315093insertion1nstd102humanPathogenic GRCh37 chr15: 51,242,065-51,242,065 , GRCh38 chr15: 50,949,868-50,949,868 AP4E1
    nsv3887668copy number variation1nstd102humanPathogenic GRCh37 chr15: 51,048,188-51,240,879 , GRCh38 chr15: 50,755,991-50,948,682 AP4E1, SPPL2A, 2 more genes

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