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Items: 7

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    Number of Variants: 7

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3874472copy number variation1nstd102humanPathogenic GRCh38 chrX: 40,051,246-40,075,180 , GRCh37.p13 chrX: 39,910,499-39,934,433 BCOR
    nsv3886591copy number variation1nstd102humanPathogenic GRCh38 chrX: 40,053,065-40,054,474 , GRCh37 chrX: 39,912,318-39,913,727 BCOR
    nsv3919275insertion1nstd102humanPathogenic GRCh37 chr7: 42,005,900-42,005,900 , GRCh38 chr7: 41,966,302-41,966,302 GLI3
    nsv3916072insertion7nstd102humanrisk factor, Pathogenic, Benign GRCh37 chr17: 61,565,892-61,565,892 , GRCh38 chr17: 63,488,531-63,488,531 ACE
    nsv3170327copy number variation1nstd45humanPathogenic GRCh38.p12 chr19: 13,206,442-13,506,460 , GRCh37 chr19: 13,317,256-13,617,274 CACNA1A, LOC105372283
    nsv997066copy number variation1nstd45humanPathogenic GRCh37 chr7: 42,000,547-42,276,618 , GRCh38.p12 chr7: 41,960,949-42,237,019 GLI3, HMGN2P30
    nsv997133copy number variation1nstd45humanPathogenic GRCh37 chrX: 39,910,499-40,036,582 , GRCh38.p12 chrX: 40,051,246-40,177,329 BCOR, LOC105373181, 1 more genes
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