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Items: 1 to 20 of 228

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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
    nsv5299037copy number variation1nstd204human GRCh38.p13 chr21: 14,180,306-14,216,387 , GRCh37.p13 chr21: 15,552,627-15,588,708 LIPI, RBM11
    nsv5171230mobile element insertion1nstd203human GRCh38 chr21: 14,214,272-14,214,281 , GRCh37.p13 chr21: 15,586,593-15,586,602 RBM11
    nsv5022750copy number variation1nstd200human GRCh38 chr21: 14,216,031-14,218,120 , GRCh37.p13 chr21: 15,588,352-15,590,441 RBM11
    nsv5022718copy number variation1nstd200human GRCh38 chr21: 13,328,346-14,263,387 , GRCh37.p13 chr21: 14,700,667-15,635,708 ERLEC1P1, VN1R8P, 38 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
    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
    nsv4676360copy number variation1nstd102humanUncertain significance GRCh37 chr21: 15,006,457-15,708,716 , GRCh38.p12 chr21: 13,634,136-14,336,395 CYP4F29P, CNN2P7, 29 more genes
    nsv4676306copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605 JAM2, LINC01549, 161 more genes
    nsv4676170copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-24,522,577 , GRCh38.p12 chr21: 13,634,136-23,150,255 FDPSP6, RNU4-45P, 108 more genes
    nsv4514166mobile element insertion1nstd166human GRCh37.p13 chr21: 15,597,991-15,597,991 , GRCh38.p12 chr21: 14,225,670-14,225,670 RBM11
    nsv4504165mobile element insertion1nstd166human GRCh37.p13 chr21: 15,586,593-15,586,593 , GRCh38.p12 chr21: 14,214,272-14,214,272 RBM11
    nsv4435900copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 14,374,186-29,305,180 , GRCh38.p12 chr21: 13,001,865-27,932,861 APP, ATP5PF, 175 more genes
    nsv4426968copy number variation1nstd174human GRCh37 chr21: 14,456,404-15,628,668 , GRCh38.p12 chr21: 13,084,083-14,256,347 LONRF2P5, LOC112268283, 41 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
    nsv4368328copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,382 , GRCh38.p12 chr21: 13,634,137-46,677,470 , DNMT3L, 639 more genes
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