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Items: 1 to 20 of 410

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112794copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,099,570-51,187,115 , GRCh38.p12 chr22: 49,705,922-50,748,687 SCO2, CIMAP1B, 50 more genes
    nsv5673438copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,297,466-51,066,227 , GRCh38.p12 chr22: 49,903,818-50,627,799 MIR6821, CHKB, 39 more genes
    nsv5542245copy number variation1nstd206human GRCh38 chr22: 50,447,061-50,447,214 , GRCh37.p13 chr22: 50,885,490-50,885,643 SBF1
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5333592translocation1nstd200human GRCh37 chr22: 50,885,457-50,885,457 , GRCh37 chr22: 50,885,386-50,885,386 , GRCh38.p12 chr22: 50,447,028-50,447,028 , GRCh38.p12 chr22: 50,446,957-50,446,957 SBF1
    nsv5322341translocation1nstd204human GRCh38.p13 chr22: 50,446,957-50,446,957 , GRCh38.p13 chr22: 50,447,028-50,447,028 , GRCh37.p13 chr22: 50,885,386-50,885,386 , GRCh37.p13 chr22: 50,885,457-50,885,457 SBF1
    nsv5283635copy number variation1nstd204human GRCh38.p13 chr22: 50,181,501-50,588,000 , GRCh37.p13 chr22: 50,619,930-51,026,429 , SYCE3, 29 more genes
    nsv5176446mobile element insertion1nstd203human GRCh38 chr22: 50,463,580-50,463,587 , GRCh37.p13 chr22: 50,902,009-50,902,016 SBF1
    nsv5035488copy number variation1nstd200human GRCh38 chr22: 50,449,230-50,453,371 , GRCh37.p13 chr22: 50,887,659-50,891,800 SBF1
    nsv5035208copy number variation1nstd200human GRCh38 chr22: 48,120,092-50,757,227 , GRCh37.p13 chr22: 48,515,909-51,195,655 , CRELD2, 70 more genes
    nsv5034375copy number variation1nstd200human GRCh38 chr22: 50,448,816-50,449,487 , GRCh37.p13 chr22: 50,887,245-50,887,916 SBF1
    nsv5033951copy number variation1nstd200human GRCh38 chr22: 50,452,079-50,485,459 , GRCh37.p13 chr22: 50,890,508-50,923,888 ADM2, SBF1, 1 more genes
    nsv5033498copy number variation1nstd200human GRCh38 chr22: 50,442,820-50,443,969 , GRCh37.p13 chr22: 50,881,249-50,882,398 SBF1, PPP6R2
    nsv5032705copy number variation1nstd200human GRCh38 chr22: 50,462,838-50,463,330 , GRCh37.p13 chr22: 50,901,267-50,901,759 SBF1
    nsv5030619copy number variation1nstd200human GRCh38 chr22: 49,877,723-50,553,750 , GRCh37.p13 chr22: 50,271,371-50,992,179 , TUBGCP6, 35 more genes
    nsv4885134copy number variation1nstd200human GRCh37 chr22: 50,901,267-50,901,759 , GRCh38.p12 chr22: 50,462,838-50,463,330 SBF1
    nsv4729985copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,791,825-51,181,078 , GRCh38.p12 chr22: 50,353,396-50,742,650 SCO2, ADM2, 24 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4685979copy number variation1nstd102humanPathogenic GRCh38 chr22: 48,500,344-50,780,581 , GRCh37.p13 chr22: 48,896,156-51,203,353 ACR, LOC105377205, 62 more genes
    nsv4685978copy number variation1nstd102humanPathogenic GRCh38 chr22: 48,500,337-50,739,785 , GRCh37.p13 chr22: 48,896,149-51,178,213 MIR3667, RPL35P8, 59 more genes
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