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Items: 1 to 20 of 212

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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
    nsv5950367copy number variation1nstd209human GRCh38 chr21: 36,003,152-36,107,398 , GRCh37.p13 chr21: 37,375,450-37,479,696 CBR1-AS1, SETD4-AS1, 8 more genes
    nsv5541234copy number variation1nstd206human GRCh38 chr21: 35,873,808-36,272,000 , GRCh37.p13 chr21: 37,246,106-37,644,298 MTND2P1, CBR1-AS1, 16 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5290188copy number variation1nstd204human GRCh38.p13 chr21: 35,548,601-36,104,500 , GRCh37.p13 chr21: 36,920,899-37,476,798 LOC100506403, LOC101928269, 14 more genes
    nsv5284695copy number variation1nstd204human GRCh38.p13 chr21: 36,068,773-36,071,049 , GRCh37.p13 chr21: 37,441,071-37,443,347 SETD4-AS1, CBR1-AS1, 1 more genes
    nsv5029380copy number variation1nstd200human GRCh38 chr21: 35,552,535-36,276,133 , GRCh37.p13 chr21: 36,924,833-37,648,431 MTND2P1, CBR1-AS1, 20 more genes
    nsv5028923copy number variation1nstd200human GRCh38 chr21: 36,069,368-36,070,845 , GRCh37.p13 chr21: 37,441,666-37,443,143 CBR1-AS1, CBR1
    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
    nsv4681047copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,323,351-37,470,324 , GRCh38.p12 chr21: 34,951,054-36,098,026 MTND2P1, RUNX1, 16 more genes
    nsv4680885copy number variation1nstd189human GRCh37.p13 chr21: 37,392,036-37,802,705 , GRCh38.p12 chr21: 36,019,738-36,430,407 CBR1, CBR3, 17 more genes
    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
    nsv4676295copy number variation1nstd102humanLikely benign GRCh37 chr21: 37,445,791-37,509,955 , GRCh38.p12 chr21: 36,073,493-36,137,657 CBR1, CBR3, 5 more genes
    nsv4676166copy number variation1nstd102humanUncertain significance GRCh37 chr21: 36,921,412-37,467,619 , GRCh38.p12 chr21: 35,549,114-36,095,321 LINC01436, SETD4, 13 more genes
    nsv4457722copy number variation1nstd102humanUncertain significance GRCh37 chr21: 36,919,361-37,475,794 , GRCh38.p12 chr21: 35,547,063-36,103,496 CBR1, RNU6-992P, 14 more genes
    nsv4451892copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,133,458-38,311,203 , GRCh38.p12 chr21: 35,761,160-36,938,903 PPP1R2P2, CHAF1B, 30 more genes
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
    nsv4382575copy number variation2nstd173human GRCh37 chr21: 15,006,458-48,097,372 , GRCh38.p12 chr21: 13,634,137-46,677,460 , CBR3-AS1, 639 more genes
    nsv4378831copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , LOC105369299, 639 more genes
    nsv4369498copy number variation1nstd173human GRCh37 chr21: 15,547,727-45,685,800 , GRCh38.p12 chr21: 14,175,406-44,265,917 , LINC00114, 520 more genes
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