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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv6536635copy number variation1nstd223human GRCh38 chr20: 45,537,100-45,547,663 , GRCh37.p13 chr20: 44,165,739-44,176,302 EPPIN-WFDC6, HSPD1P21, 3 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
    nsv6134034copy number variation1nstd213human GRCh37 chr20: 44,070,000-44,320,001 , GRCh38.p12 chr20: 45,441,360-45,691,362 EPPIN, RPL5P2, 15 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
    nsv5976704inversion1nstd209human GRCh38 chr20: 36,955,252-45,585,469 , GRCh37.p13 chr20: 35,583,655-44,214,108 , ADA, 180 more genes
    nsv5422114mobile element insertion1nstd206human GRCh38 chr20: 45,532,192-45,532,243 , GRCh37.p13 chr20: 44,160,831-44,160,882 WFDC6, LOC107987282
    nsv5324090inversion1nstd204human GRCh37.p13 chr20: 35,583,652-44,214,109 , GRCh38.p13 chr20: 36,955,249-45,585,470 , BPI, 180 more genes
    nsv5172208mobile element insertion1nstd203human GRCh38 chr20: 45,533,620-45,533,642 , GRCh37.p13 chr20: 44,162,259-44,162,281 WFDC6, LOC107987282
    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
    nsv4282346copy number variation1nstd166human GRCh37.p13 chr20: 44,122,756-44,415,725 , GRCh38.p12 chr20: 45,494,116-45,787,086 EPPIN-WFDC6, MIR3617, 19 more genes
    nsv3966805copy number variation1nstd168human GRCh38 chr20: 45,514,206-45,534,303 , GRCh37.p13 chr20: 44,142,846-44,162,942 SPINT3, WFDC6, 2 more genes
    nsv3962694insertion1nstd168human GRCh37.p13 chr20: 44,142,846-44,178,697 , GRCh38 chr20: 45,514,206-45,550,058 SPINT3, EPPIN, 5 more genes
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