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Items: 1 to 20 of 285

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7139721copy number variation1nstd232human GRCh37.p13 chr21: 40,187,933-40,187,981 , GRCh38.p12 chr21: 38,816,009-38,816,057 ETS2
    nsv7033783copy number variation1nstd229human GRCh38 chr21: 38,818,728-38,825,510 , GRCh37.p13 chr21: 40,190,652-40,197,434 ETS2
    nsv7029219copy number variation1nstd229human GRCh38 chr21: 38,819,767-38,821,582 , GRCh37.p13 chr21: 40,191,691-40,193,506 ETS2
    nsv7027925copy number variation1nstd229human GRCh38 chr21: 38,814,981-38,817,005 , GRCh37.p13 chr21: 40,186,905-40,188,929 ETS2
    nsv6637747copy number variation1nstd102humanUncertain significance GRCh37 chr21: 40,075,873-40,390,955 , GRCh38.p12 chr21: 38,703,949-39,019,029 RPSAP64, LOC107985480, 6 more genes
    nsv6627154copy number variation1nstd224human GRCh37 chr21: 40,087,153-40,303,677 , GRCh38.p12 chr21: 38,715,229-38,931,753 ETS2, LINC00114, 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
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    nsv6554443copy number variation1nstd223human GRCh38 chr21: 38,817,456-38,819,102 , GRCh37.p13 chr21: 40,189,380-40,191,026 ETS2
    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
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6291620copy number variation1nstd102humanUncertain significance GRCh37 chr21: 39,892,114-40,905,632 , GRCh38.p12 chr21: 38,520,190-39,533,705 LINC02940, BRWD1-AS1, 28 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
    nsv6217920copy number variation1nstd214human GRCh38 chr21: 38,815,972-38,816,056 , GRCh37.p13 chr21: 40,187,896-40,187,980 ETS2
    nsv6134328copy number variation1nstd213human GRCh37 chr21: 40,150,000-40,360,001 , GRCh38.p12 chr21: 38,778,076-38,988,075 ETS2, ETS2-AS1, 5 more genes
    nsv6134198copy number variation1nstd213human GRCh37 chr21: 39,600,000-42,850,001 , GRCh38.p12 chr21: 38,228,078-41,478,074 ETS2, KCNJ15, 54 more genes
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6056652copy number variation1nstd212human GRCh38 chr21: 38,816,000-38,816,054 , GRCh37.p13 chr21: 40,187,924-40,187,978 ETS2
    nsv5584910copy number variation1nstd207human GRCh38 chr21: 38,815,997-38,816,057 , GRCh37.p13 chr21: 40,187,921-40,187,981 ETS2
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
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