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Items: 1 to 20 of 94

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3885652copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,870-45,717,630 , GRCh38 chr21: 44,285,987-44,297,747 AIRE
    nsv5673271copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,870-45,711,113 , GRCh38.p12 chr21: 44,285,987-44,291,230 AIRE
    nsv7096098copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,880-45,711,103 , GRCh38.p12 chr21: 44,285,997-44,291,220 AIRE
    nsv7096283copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,709,640-45,714,378 , GRCh38.p12 chr21: 44,289,757-44,294,495 AIRE
    nsv7148074copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,706,314-45,708,048 , GRCh38 chr21: 44,286,431-44,288,165 AIRE
    nsv5673270copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,870-45,707,494 , GRCh38.p12 chr21: 44,285,987-44,287,611 AIRE
    nsv5673340copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,880-45,707,026 , GRCh38.p12 chr21: 44,285,997-44,287,143 AIRE
    nsv7148063copy number variation1nstd102humanPathogenic GRCh38 chr21: 44,286,025-44,286,120 , GRCh37 chr21: 45,705,908-45,706,003 AIRE
    nsv3908107copy number variation1nstd102humanBenign GRCh37 chr21: 45,696,025-45,709,153 , GRCh38.p12 chr21: 44,276,142-44,289,270 AIRE
    nsv4451734copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,713,652-45,717,630 , GRCh38 chr21: 44,293,769-44,297,747 AIRE
    nsv4682298copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,717,519-45,717,630 , GRCh38.p12 chr21: 44,297,636-44,297,747 AIRE
    nsv5381312copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,717,519-45,717,610 , GRCh38.p12 chr21: 44,297,636-44,297,727 AIRE
    nsv3898621copy number variation1nstd102humanBenign GRCh37 chr21: 45,714,287-45,720,575 , GRCh38.p12 chr21: 44,294,404-44,300,692 AIRE, PFKL
    nsv3892971copy number variation1nstd102humanBenign GRCh37 chr21: 45,714,287-45,720,373 , GRCh38.p12 chr21: 44,294,404-44,300,490 AIRE, PFKL
    nsv3907236copy number variation1nstd102humanBenign GRCh37 chr21: 45,717,497-45,720,524 , GRCh38.p12 chr21: 44,297,614-44,300,641 AIRE, PFKL
    nsv3895028copy number variation1nstd102humanBenign GRCh37 chr21: 45,703,660-45,768,598 , GRCh38.p12 chr21: 44,283,777-44,348,715 AIRE, PFKL, 2 more genes
    nsv3890972copy number variation1nstd102humanBenign GRCh37 chr21: 45,715,620-45,750,346 , GRCh38.p12 chr21: 44,295,737-44,330,463 AIRE, PFKL, 1 more genes
    nsv3906478copy number variation1nstd102humanBenign GRCh37 chr21: 45,715,814-45,750,346 , GRCh38.p12 chr21: 44,295,931-44,330,463 AIRE, CFAP410, 1 more genes
    nsv7095811copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,655,135-45,717,610 , GRCh38.p12 chr21: 44,235,252-44,297,727 AIRE, ICOSLG, 2 more genes
    nsv7096282copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,709,520-45,759,077 , GRCh38.p12 chr21: 44,289,637-44,339,194 AIRE, PFKL, 1 more genes
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