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Items: 1 to 20 of 331

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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
    nsv5965220insertion1nstd209human GRCh38 chrX: 53,410,926-53,410,926 , GRCh37.p13 chrX|NW_004070877.1: 3,124,041-3,124,041 , GRCh37.p13 chrX: 53,437,857-53,437,857 SMC1A
    nsv5950766insertion1nstd209human GRCh38 chrX: 53,402,868-53,402,868 , GRCh37.p13 chrX|NW_004070877.1: 3,115,983-3,115,983 , GRCh37.p13 chrX: 53,429,790-53,429,790 SMC1A
    nsv5882057copy number variation1nstd209human GRCh38 chrX: 52,862,950-55,652,570 , GRCh37.p13 chrX: 52,891,979-54,424,077 , GRCh37.p13 chrX|NW_004070877.1: 2,576,065-4,110,759 , MIRLET7F2, 64 more genes
    nsv5674167copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,449,431-53,449,549 , GRCh38.p12 chrX: 53,422,482-53,422,600 RIBC1, SMC1A
    nsv5564471copy number variation1nstd102humanUncertain significance GRCh37 chrX: 53,421,698-53,421,808 , GRCh38.p12 chrX: 53,394,778-53,394,888 SMC1A
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 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
    nsv5381752copy number variation1nstd102humanUncertain significance GRCh37 chrX: 53,421,698-53,459,359 , GRCh38.p12 chrX: 53,394,778-53,432,411 HSD17B10, SMC1A, 2 more genes
    nsv5381719copy number variation1nstd102humanUncertain significance GRCh37 chrX: 53,421,678-53,449,569 , GRCh38.p12 chrX: 53,394,758-53,422,620 SMC1A, MIR6857, 1 more genes
    nsv5381670copy number variation1nstd102humanUncertain significance GRCh37 chrX: 53,349,605-53,410,184 , GRCh38.p12 chrX: 53,320,407-53,383,263 RPSAP62, IQSEC2, 2 more genes
    nsv5376233translocation1nstd200human GRCh38 chrX: 53,392,516-53,392,516 , GRCh38 chrX: 53,387,087-53,387,087 , GRCh37.p13 chrX|NW_004070877.1: 3,100,202-3,100,202 , GRCh37.p13 chrX: 53,414,007-53,414,007 , GRCh37.p13 chrX|NW_004070877.1: 3,105,631-3,105,631 , GRCh37.p13 chrX: 53,419,436-53,419,436 SMC1A
    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
    nsv4905514copy number variation1nstd200human GRCh38 chrX: 53,359,121-53,458,503 , GRCh37.p13 chrX|NW_004070877.1: 3,072,236-3,171,618 , GRCh37.p13 chrX: 53,386,044-53,485,450 MIR6857, RIBC1, 3 more genes
    nsv4782012copy number variation1nstd200human GRCh37 chrX: 53,386,044-53,485,450 , GRCh38.p12 chrX: 53,359,121-53,458,503 TIPINP1, RIBC1, 3 more genes
    nsv4779753copy number variation1nstd200human GRCh37 chrX: 53,443,132-53,444,647 , GRCh38.p12 chrX: 53,416,182-53,417,697 SMC1A
    nsv4779752copy number variation1nstd200human GRCh37 chrX: 53,431,311-53,431,361 , GRCh38.p12 chrX: 53,404,379-53,404,429 MIR6857, SMC1A
    nsv4779751copy number variation1nstd200human GRCh37 chrX: 53,414,007-53,419,436 , GRCh38.p12 chrX: 53,387,087-53,392,516 SMC1A
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