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Items: 1 to 20 of 152

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145684copy number variation1nstd232human GRCh37.p13 chr20: 44,049,065-44,049,162 , GRCh38.p12 chr20: 45,420,425-45,420,522 PIGT
    nsv7139939copy number variation1nstd232human GRCh37.p13 chr20: 44,053,019-44,053,132 , GRCh38.p12 chr20: 45,424,379-45,424,492 PIGT, MIR6812
    nsv7095898copy number variation1nstd102humanPathogenic GRCh37 chr20: 42,223,339-44,638,757 , GRCh38.p12 chr20: 43,594,699-46,010,118 ADA, CCN5, 99 more genes
    nsv7075825inversion1nstd229human GRCh38 chr20: 45,232,922-45,712,689 , GRCh37.p13 chr20: 43,861,563-44,341,328 PIGT, LOC105372630, 33 more genes
    nsv7062736inversion1nstd229human GRCh38 chr20: 36,955,253-45,585,462 , GRCh37.p13 chr20: 35,583,656-44,214,101 GDAP1L1, PI3, 177 more genes
    nsv6596116inversion1nstd223human GRCh38 chr20: 36,955,253-45,585,469 , GRCh37.p13 chr20: 35,583,656-44,214,108 LOC101929863, LOC105372620, 177 more genes
    nsv6290315copy number variation1nstd102humanPathogenic GRCh37 chr20: 42,985,044-48,599,046 , GRCh38.p12 chr20: 44,356,404-49,982,509 PABPC1L, LOC107985401, 170 more genes
    nsv6134164copy number variation1nstd213human GRCh37 chr20: 43,170,000-44,070,001 , GRCh38.p12 chr20: 44,541,359-45,441,361 PI3, SEMG2, 35 more genes
    nsv6133816copy number variation1nstd213human GRCh37 chr20: 43,650,000-45,170,001 , GRCh38.p12 chr20: 45,021,359-46,541,362 MMP9, PI3, 76 more genes
    nsv6045509copy number variation1nstd212human GRCh38 chr20: 45,425,125-45,425,176 , GRCh37.p13 chr20: 44,053,765-44,053,816 PIGT, MIR6812
    nsv5976704inversion1nstd209human GRCh38 chr20: 36,955,252-45,585,469 , GRCh37.p13 chr20: 35,583,655-44,214,108 , ADA, 180 more genes
    nsv5704685mobile element insertion1nstd211human GRCh38 chr20: 45,418,124-45,418,124 , GRCh37.p13 chr20: 44,046,764-44,046,764 LOC107985405, PIGT
    nsv5423171mobile element insertion1nstd206human GRCh38 chr20: 45,418,124-45,418,175 , GRCh37.p13 chr20: 44,046,764-44,046,815 PIGT, LOC107985405
    nsv5324090inversion1nstd204human GRCh37.p13 chr20: 35,583,652-44,214,109 , GRCh38.p13 chr20: 36,955,249-45,585,470 , BPI, 180 more genes
    nsv5033948inversion1nstd200human GRCh38 chr20: 36,955,253-45,585,464 , GRCh37.p13 chr20: 35,583,656-44,214,103 , EMILIN3, 180 more genes
    nsv5022342copy number variation1nstd200human GRCh38 chr20: 32,576,247-46,538,786 , GRCh37.p13 chr20: 31,164,049-45,167,425 , NECAB3, 350 more genes
    nsv4884257inversion1nstd200human GRCh37 chr20: 35,583,656-44,214,103 , GRCh38.p12 chr20: 36,955,253-45,585,464 , TGM2, 180 more genes
    nsv4868593copy number variation1nstd200human GRCh37 chr20: 31,164,049-45,167,425 , GRCh38.p12 chr20: 32,576,247-46,538,786 , MMP24-AS1-EDEM2, 350 more genes
    nsv4674805copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 34,980,430-46,806,549 , GRCh38.p12 chr20: 36,352,027-48,177,806 ADA, BPI, 266 more genes
    nsv4511187mobile element insertion1nstd166human GRCh37.p13 chr20: 44,044,333-44,044,333 , GRCh38.p12 chr20: 45,415,693-45,415,693 PIGT, LOC107985405
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