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Items: 1 to 20 of 336

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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
    nsv5720938mobile element insertion1nstd211human GRCh38 chrX: 49,297,853-49,297,853 , GRCh37.p13 chrX: 49,154,331-49,154,331 , GRCh37.p13 chrX|NW_004070880.2: 1,537,282-1,537,282 PPP1R3F
    nsv5611970insertion1nstd207human GRCh38 chrX: 49,291,316-49,291,316 , GRCh37.p13 chrX|NW_004070880.2: 1,530,745-1,530,745 , GRCh37.p13 chrX: 49,147,784-49,147,784 PPP1R3F
    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
    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
    nsv5376207translocation1nstd200human GRCh38 chrX: 49,301,804-49,301,804 , GRCh38 chrX: 49,301,249-49,301,249 , GRCh37.p13 chrX: 49,157,728-49,157,728 , GRCh37.p13 chrX|NW_004070880.2: 1,541,233-1,541,233 , GRCh37.p13 chrX|NW_004070880.2: 1,540,678-1,540,678 , GRCh37.p13 chrX: 49,158,283-49,158,283 GAGE10, PPP1R3F
    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
    nsv4779697copy number variation1nstd200human GRCh37 chrX: 49,157,727-49,158,283 , GRCh38.p12 chrX: 49,301,248-49,301,804 GAGE10, PPP1R3F
    nsv4728653copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,102,202-52,685,635 , GRCh38.p12 chrX: 48,242,767-52,656,585 CCNB3, AKAP4, 150 more genes
    nsv4728486copy number variation1nstd102humanPathogenic GRCh37 chrX: 219,609-55,466,476 , GRCh38.p12 chrX: 302,942-55,440,043 CDK16, WASF4P, 772 more genes
    nsv4728228copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,178,413-52,686,510 , GRCh38.p12 chrX: 48,318,978-52,657,460 MRPL32P1, LOC100421603, 142 more genes
    nsv4684016inversion1nstd191human GRCh37.p13 chrX: 32,933,886-87,244,324 , GRCh38 chrX: 32,915,769-87,989,324 , ABCB7, 816 more genes
    nsv4680157copy number variation1nstd189human GRCh37.p13 chrX: 48,059,259-52,748,576 , GRCh38.p12 chrX: 48,199,823-52,719,527 CACNA1F, CLCN5, 157 more genes
    nsv4674588copy number variation1nstd102humanPathogenic GRCh37 chrX: 539,722-55,509,385 , GRCh38.p12 chrX: 578,987-55,482,952 LOC392440, SSX4, 769 more genes
    nsv4674481copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,307,437-50,657,313 , GRCh38.p12 chrX: 48,449,065-50,914,313 ACAA2P1, GAGE12C, 84 more genes
    nsv4633235copy number variation1nstd183human GRCh37 chrX: 49,143,816-49,242,935 , GRCh38.p12 chrX: 49,287,354-49,347,809 PPP1R3F, GAGE12J, 3 more genes
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