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Items: 1 to 20 of 265

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5951954copy number variation1nstd209human GRCh38 chr21: 32,760,040-32,760,120 , GRCh37.p13 chr21: 34,132,351-34,132,431 PAXBP1
    nsv5709634mobile element insertion2nstd211human GRCh38 chr21: 32,738,413-32,738,413 , GRCh37.p13 chr21: 34,110,724-34,110,724 PAXBP1, PAXBP1-AS1
    nsv5703185mobile element insertion1nstd211human GRCh38 chr21: 32,757,132-32,757,132 , GRCh37.p13 chr21: 34,129,443-34,129,443 PAXBP1
    nsv5665413insertion1nstd207human GRCh38 chr21: 32,771,989-32,771,989 , GRCh37.p13 chr21: 34,144,300-34,144,300 C21orf62-AS1, PAXBP1
    nsv5586353copy number variation1nstd207human GRCh38 chr21: 32,771,871-32,771,948 , GRCh37.p13 chr21: 34,144,182-34,144,259 PAXBP1, C21orf62-AS1
    nsv5553107copy number variation1nstd206human GRCh38 chr21: 32,671,949-32,758,884 , GRCh37.p13 chr21: 34,044,259-34,131,195 SYNJ1, PAXBP1-AS1, 1 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5537490copy number variation1nstd206human GRCh38 chr21: 32,762,834-32,763,867 , GRCh37.p13 chr21: 34,135,145-34,136,178 PAXBP1
    nsv5430514mobile element insertion1nstd206human GRCh38 chr21: 32,738,413-32,738,464 , GRCh37.p13 chr21: 34,110,724-34,110,775 PAXBP1-AS1, PAXBP1
    nsv5381310copy number variation1nstd102humanUncertain significance GRCh37 chr21: 32,439,271-37,133,458 , GRCh38.p12 chr21: 31,066,952-35,761,160 LINC00945, CFAP298-TCP10L, 83 more genes
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5176825mobile element insertion1nstd203human GRCh38 chr21: 32,738,406-32,738,413 , GRCh37.p13 chr21: 34,110,717-34,110,724 PAXBP1-AS1, PAXBP1
    nsv5169575mobile element insertion1nstd203human GRCh38 chr21: 32,738,408-32,738,413 , GRCh37.p13 chr21: 34,110,719-34,110,724 PAXBP1, PAXBP1-AS1
    nsv5166132mobile element insertion1nstd203human GRCh38 chr21: 32,738,401-32,738,413 , GRCh37.p13 chr21: 34,110,712-34,110,724 PAXBP1-AS1, PAXBP1
    nsv5028813copy number variation1nstd200human GRCh38 chr21: 32,758,759-32,758,881 , GRCh37.p13 chr21: 34,131,070-34,131,192 PAXBP1
    nsv4865834copy number variation1nstd200human GRCh37 chr21: 34,044,149-34,131,196 , GRCh38.p12 chr21: 32,671,839-32,758,885 PAXBP1-AS1, PAXBP1, 1 more genes
    nsv4863118copy number variation1nstd200human GRCh37 chr21: 34,131,070-34,131,192 , GRCh38.p12 chr21: 32,758,759-32,758,881 PAXBP1
    nsv4745650copy number variation1nstd199human GRCh37 chr21: 34,144,167-34,144,253 , GRCh38.p12 chr21: 32,771,856-32,771,942 , GRCh38.p12 chr21|NW_003315969.2: 2,778-2,864 C21orf62-AS1, PAXBP1
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
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