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Items: 6

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    Number of Variants: 6

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683807copy number variation1nstd102humanLikely pathogenic GRCh37 chr18: 28,647,971-28,650,826 , GRCh38.p12 chr18: 31,068,005-31,070,860 DSC2
    nsv4682967copy number variation1nstd102humanUncertain significance GRCh37 chr18: 28,647,971-28,673,616 , GRCh38.p12 chr18: 31,068,005-31,093,653 DSC2
    nsv3888111copy number variation1nstd102humanLikely pathogenic GRCh37 chr18: 28,673,502-28,673,626 , GRCh38 chr18: 31,093,539-31,093,663 DSC2
    nsv3882813copy number variation1nstd102humanPathogenic GRCh37 chr18: 28,672,044-28,681,954 , GRCh38 chr18: 31,092,081-31,101,991 DSC2, DSCAS
    nsv3881070copy number variation1nstd102humanPathogenic GRCh37 chr18: 28,650,672-28,650,836 , GRCh38 chr18: 31,070,706-31,070,870 DSC2
    nsv3878892copy number variation1nstd102humanPathogenic GRCh37 chr18: 28,654,629-28,673,626 , GRCh38.p12 chr18: 31,074,663-31,093,663 DSC2
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