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Items: 1 to 20 of 345

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112721copy number variation1nstd102humanPathogenic GRCh37 chrX: 47,179,068-54,424,785 , GRCh38.p12 chrX: 47,319,669-54,398,352 SNORA11E, SSX11P, 229 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5877274copy number variation1nstd209human GRCh38 chrX: 48,251,965-52,619,725 , GRCh37.p13 chrX|NW_004070877.1: 1-2,332,840 PLP2, SSXP8, 146 more genes
    nsv5873060copy number variation1nstd209human GRCh38 chrX: 49,082,736-49,082,901 , GRCh37.p13 chrX|NW_004070880.2: 1,322,165-1,322,330 , GRCh37.p13 chrX: 48,940,389-48,940,554 WDR45
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 more genes
    nsv5433390copy number variation1nstd206human GRCh38 chrX: 49,088,286-49,091,992 , GRCh37.p13 chrX: 48,945,221-48,948,928 , GRCh37.p13 chrX|NW_004070880.2: 1,327,715-1,331,421 WDR45
    nsv5428573copy number variation1nstd206human GRCh38 chrX: 49,084,913-49,086,396 , GRCh37.p13 chrX: 48,941,825-48,943,331 , GRCh37.p13 chrX|NW_004070880.2: 1,324,342-1,325,825 WDR45
    nsv5423508copy number variation1nstd206human GRCh38 chrX: 49,073,106-49,073,304 , GRCh37.p13 chrX: 48,930,765-48,930,963 , GRCh37.p13 chrX|NW_004070880.2: 1,312,535-1,312,733 WDR45, PRAF2
    nsv5416491copy number variation1nstd206human GRCh38 chrX: 39,941,083-72,578,519 , GRCh37.p13 chrX: 39,800,337-71,530,833 , USP51, 564 more genes
    nsv5415855copy number variation1nstd206human GRCh38 chrX: 49,097,430-49,109,898 , GRCh37.p13 chrX|NW_004070880.2: 1,336,859-1,349,327 , GRCh37.p13 chrX: 48,954,370-48,966,836 WDR45
    nsv5381751copy number variation2nstd102humanUncertain significance GRCh37 chrX: 48,382,160-49,856,876 , GRCh38.p12 chrX: 48,523,772-50,092,219 EBP, MIR500A, 71 more genes
    nsv5336476translocation1nstd200human GRCh37 chrX: 48,937,509-48,937,509 , GRCh37 chrX: 48,937,457-48,937,457 , GRCh38.p12 chrX: 49,079,798-49,079,798 , GRCh38.p12 chrX: 49,079,850-49,079,850 WDR45
    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
    nsv4905484copy number variation1nstd200human GRCh38 chrX: 49,079,269-49,107,825 , GRCh37.p13 chrX|NW_004070880.2: 1,318,698-1,347,254 , GRCh37.p13 chrX: 48,936,928-48,964,760 WDR45, RNU4-52P
    nsv4902702copy number variation1nstd200human GRCh38 chrX: 49,081,172-49,084,242 , GRCh37.p13 chrX|NW_004070880.2: 1,320,601-1,323,671 , GRCh37.p13 chrX: 48,938,829-48,941,384 WDR45, RNU4-52P
    nsv4779693copy number variation1nstd200human GRCh37 chrX: 48,954,400-48,966,809 , GRCh38.p12 chrX: 49,097,460-49,109,871 WDR45
    nsv4779692copy number variation1nstd200human GRCh37 chrX: 48,951,216-48,956,553 , GRCh38.p12 chrX: 49,094,278-49,099,615 WDR45
    nsv4779691copy number variation1nstd200human GRCh37 chrX: 48,941,799-48,943,330 , GRCh38.p12 chrX: 49,084,887-49,086,395 WDR45
    nsv4764278copy number variation1nstd199human GRCh37 chrX: 48,957,321-48,957,434 , GRCh38.p12 chrX: 49,100,383-49,100,496 WDR45
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