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Items: 1 to 20 of 373

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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
    nsv5967710copy number variation1nstd209human GRCh38 chrX: 24,467,388-24,548,015 , GRCh37.p13 chrX: 24,485,505-24,566,132 SNRPEP9, PDK3
    nsv5880697copy number variation1nstd209human GRCh38 chrX: 24,521,238-24,522,864 , GRCh37.p13 chrX: 24,539,355-24,540,981 PDK3
    nsv5879156copy number variation1nstd209human GRCh38 chrX: 24,478,352-24,479,676 , GRCh37.p13 chrX: 24,496,469-24,497,793 PDK3
    nsv5878376copy number variation1nstd209human GRCh38 chrX: 24,470,806-24,595,189 , GRCh37.p13 chrX: 24,488,923-24,613,306 PCYT1B, SNRPEP9, 1 more genes
    nsv5726988mobile element insertion2nstd211human GRCh38 chrX: 24,548,746-24,548,746 , GRCh37.p13 chrX: 24,566,863-24,566,863 PDK3
    nsv5430010copy number variation1nstd206human GRCh38 chrX: 24,515,580-24,516,017 , GRCh37.p13 chrX: 24,533,697-24,534,134 PDK3
    nsv5417465copy number variation1nstd206human GRCh38 chrX: 24,521,218-24,522,911 , GRCh37.p13 chrX: 24,539,335-24,541,028 PDK3
    nsv5375967translocation1nstd200human GRCh38 chrX: 24,474,923-24,474,923 , GRCh38 chrX: 24,474,095-24,474,095 , GRCh37.p13 chrX: 24,492,212-24,492,212 , GRCh37.p13 chrX: 24,493,040-24,493,040 PDK3
    nsv5198148mobile element insertion1nstd203human GRCh38 chrX: 24,496,568-24,496,591 , GRCh37.p13 chrX: 24,514,685-24,514,708 PDK3
    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
    nsv4905284copy number variation1nstd200human GRCh38 chrX: 24,485,907-24,518,545 , GRCh37.p13 chrX: 24,504,024-24,536,662 PDK3, SNRPEP9
    nsv4905283copy number variation1nstd200human GRCh38 chrX: 24,473,616-24,474,919 , GRCh37.p13 chrX: 24,491,733-24,493,036 PDK3
    nsv4781893copy number variation1nstd200human GRCh37 chrX: 24,504,024-24,536,662 , GRCh38.p12 chrX: 24,485,907-24,518,545 SNRPEP9, PDK3
    nsv4728486copy number variation1nstd102humanPathogenic GRCh37 chrX: 219,609-55,466,476 , GRCh38.p12 chrX: 302,942-55,440,043 CDK16, WASF4P, 772 more genes
    nsv4728297copy number variation1nstd102humanUncertain significance GRCh37 chrX: 24,466,056-24,968,754 , GRCh38.p12 chrX: 24,447,939-24,950,637 PCYT1B-AS1, LOC100288233, 7 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
    nsv4674458copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-34,753,512 , GRCh38.p12 chrX: 251,879-34,735,395 P2RY8, CA5BP1-CA5B, 344 more genes
    nsv4644663copy number variation1nstd186human GRCh37 chrX: 24,539,415-24,540,978 , GRCh38.p12 chrX: 24,521,298-24,522,861 PDK3
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