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Items: 7

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    Number of Variants: 7

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5672589copy number variation1nstd102humanLikely pathogenic GRCh37 chr15: 72,637,767-72,639,071 , GRCh38.p12 chr15: 72,345,426-72,346,730 HEXA
    nsv4683987copy number variation1nstd102humanPathogenic GRCh37 chr15: 72,662,932-72,670,877 , GRCh38.p12 chr15: 72,370,591-72,378,536 HEXA, HEXA-AS1, 1 more genes
    nsv4683814copy number variation1nstd102humanPathogenic GRCh37 chr15: 72,666,801-72,668,333 , GRCh38.p12 chr15: 72,374,460-72,375,992 HEXA-AS1, HEXA
    nsv4682283copy number variation1nstd102humanPathogenic GRCh37 chr15: 72,642,849-72,643,585 , GRCh38.p12 chr15: 72,350,508-72,351,244 HEXA
    nsv4451071copy number variation1nstd102humanUncertain significance GRCh38 chr15: 72,347,666-72,351,254 , GRCh37 chr15: 72,640,007-72,643,595 HEXA
    nsv3924558delins1nstd102humanPathogenic/Likely pathogenic GRCh37 chr15: 72,662,933-72,670,877 , GRCh38 chr15: 72,370,592-72,378,536 HEXA, HEXA-AS1, 1 more genes
    nsv3881527copy number variation1nstd102humanLikely pathogenic GRCh37 chr15: 72,637,787-72,639,051 , GRCh38 chr15: 72,345,446-72,346,710 HEXA
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