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Items: 1 to 20 of 335

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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 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5884163copy number variation1nstd209human GRCh38 chrX: 46,867,134-46,869,331 , GRCh37.p13 chrX: 46,726,569-46,728,766 , GRCh37.p13 chrX|NW_004166866.1: 116,695-118,892 RP2
    nsv5882824copy number variation1nstd209human GRCh38 chrX: 44,722,720-48,672,672 , GRCh37.p13 chrX: 44,581,966-47,619,970 ZNF674-AS1, CDK16, 115 more genes
    nsv5873682copy number variation1nstd209human GRCh38 chrX: 41,560,623-47,265,899 , GRCh37.p13 chrX: 41,419,876-47,125,298 , CTNNBL1P1, 80 more genes
    nsv5674148copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 46,712,891-46,713,596 , GRCh38.p12 chrX: 46,853,456-46,854,161 RP2
    nsv5674147copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,508,101-46,739,204 , GRCh38.p12 chrX: 46,648,666-46,879,769 YBX1P8, CHMP5P1, 2 more genes
    nsv5664893copy number variation1nstd207human GRCh37.p13 chrX|NW_004166866.1: 97,453-97,502 , GRCh38 chrX: 46,847,892-46,847,941 , GRCh37.p13 chrX: 46,707,327-46,707,376 RP2
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 more genes
    nsv5556729sequence alteration1nstd206human GRCh37.p13 chrX|NW_004166866.1: 111,970-469,972 , GRCh38 chrX: 46,862,409-47,356,182 , GRCh37.p13 chrX: 46,721,844-47,079,810 USP11, RGN, 16 more genes
    nsv5416491copy number variation1nstd206human GRCh38 chrX: 39,941,083-72,578,519 , GRCh37.p13 chrX: 39,800,337-71,530,833 , USP51, 564 more genes
    nsv5381699copy number variation1nstd102humanUncertain significance GRCh37 chrX: 46,696,536-47,436,910 , GRCh38.p12 chrX: 46,837,101-47,577,511 LINC01560, LOC105373194, 25 more genes
    nsv5164263mobile element insertion1nstd203human GRCh38 chrX: 46,870,981-46,870,996 , GRCh37.p13 chrX|NW_004166866.1: 120,542-120,557 , GRCh37.p13 chrX: 46,730,416-46,730,431 RP2
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv5030775inversion1nstd200human GRCh38 chrX: 23,472,124-121,561,941 , GRCh37.p13 chrX: 23,490,241-120,695,795 , GPR173, 1350 more genes
    nsv4771366copy number variation1nstd200human GRCh37 chrX: 46,726,617-46,728,771 , GRCh38.p12 chrX: 46,867,182-46,869,336 RP2
    nsv4728486copy number variation1nstd102humanPathogenic GRCh37 chrX: 219,609-55,466,476 , GRCh38.p12 chrX: 302,942-55,440,043 CDK16, WASF4P, 772 more genes
    nsv4684016inversion1nstd191human GRCh37.p13 chrX: 32,933,886-87,244,324 , GRCh38 chrX: 32,915,769-87,989,324 , ABCB7, 816 more genes
    nsv4683378copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,736,940-46,739,204 , GRCh38.p12 chrX: 46,877,505-46,879,769 RP2
    nsv4683312copy number variation1nstd102humanPathogenic GRCh37 chrX: 45,605,561-46,952,346 , GRCh38.p12 chrX: 45,746,133-47,092,947 CTNNBL1P1, KRBOX4, 25 more genes
    nsv4683158copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,719,423-46,952,346 , GRCh38.p12 chrX: 46,859,988-47,092,947 JADE3, LINC01545, 3 more genes
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