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Items: 4

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    Number of Variants: 4

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137018copy number variation1nstd102humanPathogenic GRCh37 chr17: 69,472,000-69,712,000 , GRCh38.p12 chr17: 71,475,859-71,715,859 , GRCh38.p12 chr17|NT_187615.1: 1-132,351 MYL6P5
    nsv6289871copy number variation1nstd102humanPathogenic GRCh37 chr17: 69,521,863-69,670,036 , GRCh38.p12 chr17: 71,525,722-71,673,895 , GRCh38.p12 chr17|NT_187615.1: 1-90,439 MYL6P5
    nsv3876963copy number variation1nstd102humanPathogenic NCBI36 chr17: 66,151,316-67,111,510 , GRCh37 chr17: 68,639,721-69,599,915 , GRCh38 chr17: 70,643,580-71,603,774 LOC100131241, LOC105371884, 2 more genes
    nsv997236copy number variation1nstd45humanPathogenic GRCh37 chr17: 70,117,161-70,122,561 , GRCh38.p12 chr17: 72,121,020-72,126,420 SOX9, SOX9-AS1
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