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Items: 1 to 20 of 386

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 MIR514A1, ASMER2, 2151 more genes
    nsv5876434copy number variation1nstd209human GRCh38 chrX: 38,393,287-38,394,693 , GRCh37.p13 chrX: 38,252,540-38,253,946 OTC, TDGF1P1
    nsv5873004copy number variation1nstd209human GRCh38 chrX: 37,651,918-42,011,744 , GRCh37.p13 chrX: 37,669,767-41,870,997 , RNU6-49P, 72 more genes
    nsv5674164copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,210,736-38,281,703 , GRCh38.p12 chrX: 38,351,483-38,422,450 OTC, TDGF1P1
    nsv5674145copy number variation1nstd102humanPathogenic GRCh37 chrX: 37,545,215-38,280,335 , GRCh38.p12 chrX: 37,685,962-38,421,082 H2AL3, DYNLT3, 11 more genes
    nsv5381669copy number variation1nstd102humanUncertain significance GRCh37 chrX: 38,156,517-38,240,702 , GRCh38.p12 chrX: 38,297,264-38,381,449 OTC, RPGR
    nsv5198107mobile element insertion1nstd203human GRCh38 chrX: 38,372,407-38,372,407 , GRCh37.p13 chrX: 38,231,660-38,231,660 OTC
    nsv5197879mobile element insertion1nstd203human GRCh38 chrX: 38,394,921-38,394,928 , GRCh37.p13 chrX: 38,254,174-38,254,181 OTC, TDGF1P1
    nsv5186893mobile element insertion1nstd203human GRCh38 chrX: 38,357,899-38,357,915 , GRCh37.p13 chrX: 38,217,152-38,217,168 OTC
    nsv5164559mobile element insertion1nstd203human GRCh38 chrX: 38,399,353-38,399,362 , GRCh37.p13 chrX: 38,258,606-38,258,615 OTC
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 RN7SL144P, KRBOX4, 785 more genes
    nsv5030775inversion1nstd200human GRCh38 chrX: 23,472,124-121,561,941 , GRCh37.p13 chrX: 23,490,241-120,695,795 , RNF19BPX, 1350 more genes
    nsv4905391copy number variation1nstd200human GRCh38 chrX: 37,655,592-38,492,757 , GRCh37.p13 chrX: 37,669,767-38,352,010 XK, SRPX, 14 more genes
    nsv4728486copy number variation1nstd102humanPathogenic GRCh37 chrX: 219,609-55,466,476 , GRCh38.p12 chrX: 302,942-55,440,043 CHST7, FAM47C, 772 more genes
    nsv4728331copy number variation1nstd102humanUncertain significance GRCh37 chrX: 37,487,291-38,568,933 , GRCh38.p12 chrX: 37,628,038-38,709,679 XK, SYTL5, 17 more genes
    nsv4685868copy number variation1nstd102humanPathogenic GRCh37 chrX: 35,820,200-38,547,007 , GRCh38.p12 chrX: 35,802,083-38,687,753 MIR548AJ2, CFAP47, 36 more genes
    nsv4684016inversion1nstd191human GRCh37.p13 chrX: 32,933,886-87,244,324 , GRCh38 chrX: 32,915,769-87,989,324 , ABCB7, 816 more genes
    nsv4683444copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,226,524-38,226,702 , GRCh38.p12 chrX: 38,367,271-38,367,449 OTC
    nsv4683403copy number variation1nstd102humanPathogenic GRCh37 chrX: 37,639,262-38,280,355 , GRCh38.p12 chrX: 37,780,009-38,421,102 RNU6-49P, TDGF1P1, 10 more genes
    nsv4682902copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,128,859-38,280,355 , GRCh38.p12 chrX: 38,269,606-38,421,102 RPGR, TDGF1P1, 1 more genes
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