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Items: 3

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    Number of Variants: 3

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4684388delins1nstd102humanPathogenic GRCh38 chr22: 37,973,811-37,974,938 , GRCh37 chr22: 38,369,818-38,370,945 POLR2F, SOX10
    nsv3918848copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,805,546-37,983,784 , GRCh37 chr22: 38,201,553-38,379,791 MIR6820, GALR3, 11 more genes
    nsv997048copy number variation1nstd45humanPathogenic GRCh38.p12 chr22: 37,972,312-37,984,532 , GRCh37 chr22: 38,368,319-38,380,539 POLR2F, SOX10
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