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Items: 1 to 20 of 207

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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
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5023174copy number variation1nstd200human GRCh38 chr21: 22,907,052-31,032,550 , GRCh37.p13 chr21: 24,279,373-32,404,869 , KRTAP13-1, 136 more genes
    nsv4863062copy number variation1nstd200human GRCh37 chr21: 31,733,613-31,828,028 , GRCh38.p12 chr21: 30,361,295-30,455,710 KRTAP13-1, KRTAP15-1, 6 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
    nsv4729884copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,119,490-32,484,078 , GRCh38.p12 chr21: 29,747,171-31,111,760 KRTAP20-2, KRTAP6-3, 52 more genes
    nsv4684335copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,172,702-32,008,007 , GRCh38.p12 chr21: 29,800,385-30,635,688 KRTAP19-6, GRIK1, 35 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
    nsv4676305copy number variation1nstd102humanUncertain significance GRCh37 chr21: 31,171,624-31,965,248 , GRCh38.p12 chr21: 29,799,307-30,592,929 KRTAP15-1, KRTAP19-11P, 29 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
    nsv4676178copy number variation1nstd102humanPathogenic GRCh37 chr21: 27,826,100-32,468,109 , GRCh38.p12 chr21: 26,453,781-31,095,791 GRIK1-AS2, NCSTNP1, 94 more genes
    nsv4676117copy number variation1nstd102humanLikely benign GRCh37 chr21: 31,171,624-32,002,762 , GRCh38.p12 chr21: 29,799,307-30,630,443 KRTAP19-9P, KRTAP19-4, 34 more genes
    nsv4620476copy number variation1nstd183human GRCh37 chr21: 31,735,820-31,826,863 , GRCh38.p12 chr21: 30,363,502-30,454,545 KRTAP13-1, KRTAP15-1, 6 more genes
    nsv4457773copy number variation2nstd102humanUncertain significance GRCh37 chr21: 31,171,623-32,010,342 , GRCh38.p12 chr21: 29,799,306-30,638,023 LOC105372772, MIR4327, 35 more genes
    nsv4427531copy number variation1nstd174human GRCh37 chr21: 31,803,702-31,824,843 , GRCh38.p12 chr21: 30,431,384-30,452,525 KRTAP13-5P, KRTAP13-4, 2 more genes
    nsv4417520copy number variation1nstd174human GRCh37 chr21: 31,735,808-31,826,863 , GRCh38.p12 chr21: 30,363,490-30,454,545 KRTAP13-1, KRTAP15-1, 6 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
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