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Items: 1 to 20 of 233

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095919copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,079,578-37,133,458 , GRCh38.p12 chr21: 34,707,280-35,761,160 RUNX1, EZH2P1, 9 more genes
    nsv7075861inversion1nstd229human GRCh38 chr21: 32,596,447-36,013,453 , GRCh37.p13 chr21: 33,968,757-37,385,751 , IFNAR2, 64 more genes
    nsv7070554inversion1nstd229human GRCh38 chr21: 28,138,154-35,660,050 , GRCh37.p13 chr21: 29,510,473-37,032,348 , OR7E23P, 160 more genes
    nsv7070253inversion1nstd229human GRCh38 chr21: 28,377,443-35,730,342 , GRCh37.p13 chr21: 29,749,764-37,102,640 , HUNK, 161 more genes
    nsv7060386inversion1nstd229human GRCh38 chr21: 34,646,865-38,528,329 , GRCh37.p13 chr21: 36,019,164-39,900,253 , TTC3-AS1, 70 more genes
    nsv7037586copy number variation1nstd229human GRCh38 chr21: 34,581,801-34,750,500 , GRCh37.p13 chr21: 35,954,099-36,122,797 LINC01426, RCAN1, 3 more genes
    nsv7036770copy number variation1nstd229human GRCh38 chr21: 34,730,754-34,731,503 , GRCh37.p13 chr21: 36,103,052-36,103,801 LINC00160, LOC107985515
    nsv7033391copy number variation1nstd229human GRCh38 chr21: 34,528,166-34,777,417 , GRCh37.p13 chr21: 35,900,464-36,149,714 LINC00160, LOC107985515, 3 more genes
    nsv7030759copy number variation1nstd229human GRCh38 chr21: 34,723,401-34,736,500 , GRCh37.p13 chr21: 36,095,699-36,108,797 LOC107985515, LINC00160
    nsv7030684copy number variation1nstd229human GRCh38 chr21: 34,723,501-34,736,500 , GRCh37.p13 chr21: 36,095,799-36,108,797 LINC00160, LOC107985515
    nsv7027427copy number variation1nstd229human GRCh38 chr21: 34,723,319-34,723,445 , GRCh37.p13 chr21: 36,095,617-36,095,743 LINC00160
    nsv7027231copy number variation1nstd229human GRCh38 chr21: 34,673,908-34,782,115 , GRCh37.p13 chr21: 36,046,207-36,154,412 LINC01426, LOC107985515, 2 more genes
    nsv7024923copy number variation1nstd229human GRCh38 chr21: 34,724,938-34,727,277 , GRCh37.p13 chr21: 36,097,236-36,099,575 LINC00160, LOC107985515
    nsv7024874copy number variation1nstd229human GRCh38 chr21: 34,732,211-34,742,616 , GRCh37.p13 chr21: 36,104,509-36,114,913 LINC00160, LOC107985515
    nsv6637824copy number variation1nstd102humanUncertain significance GRCh37 chr21: 36,045,253-36,165,086 , GRCh38.p12 chr21: 34,672,954-34,792,789 RUNX1, CLIC6, 3 more genes
    nsv6637254copy number variation1nstd102humanUncertain significance GRCh37 chr21: 35,938,726-36,255,103 , GRCh38.p12 chr21: 34,566,428-34,882,806 LINC00160, LINC01426, 4 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6596327inversion1nstd223human GRCh38 chr21: 28,377,391-35,730,332 , GRCh37.p13 chr21: 29,749,712-37,102,630 , LOC107985515, 161 more genes
    nsv6550704copy number variation1nstd223human GRCh38 chr21: 34,732,211-34,742,612 , GRCh37.p13 chr21: 36,104,509-36,114,909 LINC00160, LOC107985515
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
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