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Items: 1 to 20 of 231

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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
    nsv5965857copy number variation1nstd209human GRCh38 chr21: 14,377,888-22,678,896 , GRCh37.p13 chr21: 15,750,209-24,051,216 , LOC107985508, 80 more genes
    nsv5963950copy number variation1nstd209human GRCh38 chr21: 14,383,364-14,393,378 , GRCh37.p13 chr21: 15,755,685-15,765,699 LOC105369304, HSPA13
    nsv5887307copy number variation1nstd209human GRCh38 chr21: 14,376,036-14,378,035 , GRCh37.p13 chr21: 15,748,357-15,750,356 HSPA13
    nsv5884406copy number variation1nstd209human GRCh38 chr21: 14,375,536-14,377,935 , GRCh37.p13 chr21: 15,747,857-15,750,256 HSPA13
    nsv5883086copy number variation1nstd209human GRCh38 chr21: 14,383,324-14,391,333 , GRCh37.p13 chr21: 15,755,645-15,763,654 HSPA13, LOC105369304
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5525636copy number variation1nstd206human GRCh38 chr21: 14,380,747-14,402,635 , GRCh37.p13 chr21: 15,753,068-15,774,956 HSPA13, LOC105369304
    nsv5350587translocation1nstd200human GRCh38 chr21: 14,377,890-14,377,890 , GRCh38 chr21: 22,678,897-22,678,897 , GRCh37.p13 chr21: 24,051,217-24,051,217 , GRCh37.p13 chr21: 15,750,211-15,750,211 HSPA13
    nsv5344755translocation1nstd200human GRCh37 chr21: 15,748,559-15,748,559 , GRCh37 chr21: 24,051,212-24,051,212 , GRCh38.p12 chr21: 14,376,238-14,376,238 , GRCh38.p12 chr21: 22,678,892-22,678,892 HSPA13
    nsv5341717translocation1nstd200human GRCh37 chr21: 24,051,217-24,051,217 , GRCh37 chr21: 15,750,211-15,750,211 , GRCh38.p12 chr21: 14,377,890-14,377,890 , GRCh38.p12 chr21: 22,678,897-22,678,897 HSPA13
    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
    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
    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
    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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