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Items: 1 to 20 of 191

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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
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    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
    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
    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
    nsv4676241copy number variation1nstd102humanLikely benign GRCh37 chr21: 33,645,526-33,925,628 , GRCh38.p12 chr21: 32,273,215-32,553,318 URB1, SNORA80A, 7 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
    nsv4457576copy number variation1nstd102humanUncertain significance GRCh37 chr21: 33,450,315-33,967,122 , GRCh38.p12 chr21: 32,078,002-32,594,812 RNA5SP490, EVA1C, 11 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
    nsv4375307copy number variation1nstd173human GRCh37 chr21: 33,651,325-33,927,886 , GRCh38.p12 chr21: 32,279,014-32,555,576 URB1-AS1, EXOSC3P1, 7 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
    nsv4368328copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,382 , GRCh38.p12 chr21: 13,634,137-46,677,470 , DNMT3L, 639 more genes
    nsv4367905copy number variation1nstd173human GRCh37 chr21: 15,255,805-48,097,372 , GRCh38.p12 chr21: 13,883,484-46,677,460 , LINC00205, 623 more genes
    nsv4352428copy number variation1nstd102humanPathogenic GRCh37 chr21: 32,589,903-35,359,935 , GRCh38.p12 chr21: 31,217,587-33,987,634 LOC105377136, HUNK, 59 more genes
    nsv4282042copy number variation1nstd166human GRCh37.p13 chr21: 33,635,816-33,764,216 , GRCh38.p12 chr21: 32,263,505-32,391,907 URB1, MIS18A, 4 more genes
    nsv3923218copy number variation3nstd102humanPathogenic GRCh38 chr21: 7,749,532-46,623,792 , NCBI36 chr21: 13,550,934-46,868,132 , GRCh37 chr21: 14,629,063-48,043,704 CHODL-AS1, VN1R109P, 683 more genes
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