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Items: 1 to 20 of 214

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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
    nsv5709634mobile element insertion2nstd211human GRCh38 chr21: 32,738,413-32,738,413 , GRCh37.p13 chr21: 34,110,724-34,110,724 PAXBP1, PAXBP1-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
    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
    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
    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
    nsv4684072copy number variation1nstd102humanPathogenic GRCh37 chr21: 33,205,064-36,039,022 , GRCh38.p12 chr21: 31,832,752-34,666,723 LOC101928107, CFAP298-TCP10L, 62 more genes
    nsv4682893copy number variation1nstd102humanUncertain significance GRCh37 chr21: 34,000,069-34,101,351 , GRCh38.p12 chr21: 32,627,759-32,729,040 PAXBP1-AS1, SYNJ1
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676196copy number variation1nstd102humanPathogenic GRCh37 chr21: 31,711,916-34,632,473 , GRCh38.p12 chr21: 30,339,598-33,260,168 OLIG2, LOC105372787, 83 more genes
    nsv4632075copy number variation1nstd183human GRCh37 chr21: 34,100,142-34,100,202 , GRCh38.p12 chr21: 32,727,831-32,727,891 PAXBP1-AS1, SYNJ1
    nsv4625999copy number variation1nstd183human GRCh37 chr21: 34,100,142-34,100,353 , GRCh38.p12 chr21: 32,727,831-32,728,042 PAXBP1-AS1, SYNJ1
    nsv4508131mobile element insertion1nstd166human GRCh37.p13 chr21: 34,110,712-34,110,712 , GRCh38.p12 chr21: 32,738,401-32,738,401 PAXBP1-AS1, PAXBP1
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
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