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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
    nsv6130346insertion1nstd186human GRCh37 chr21: 44,888,026-44,888,080 , GRCh38.p12 chr21: 43,468,146-43,468,200 HSF2BP, LINC00313
    nsv5669338insertion1nstd207human GRCh38 chr21: 43,468,158-43,468,158 , GRCh37.p13 chr21: 44,888,038-44,888,038 HSF2BP, LINC00313
    nsv5590052copy number variation1nstd207human GRCh38 chr21: 43,471,922-43,472,030 , GRCh37.p13 chr21: 44,891,802-44,891,910 HSF2BP, LINC00313
    nsv5564322copy number variation2nstd102humanUncertain significance GRCh37 chr21: 44,838,130-45,196,150 , GRCh38.p12 chr21: 43,418,250-43,776,269 LINC00319, HSF2BP, 10 more genes
    nsv5540816insertion1nstd206human GRCh38 chr21: 43,468,146-43,468,200 , GRCh37.p13 chr21: 44,888,026-44,888,080 HSF2BP, LINC00313
    nsv5366203translocation1nstd200human GRCh38 chr21: 6,070,662-6,070,662 , GRCh38 chr21: 43,468,159-43,468,159 , GRCh37.p13 chr21: 44,887,485-44,887,485 , GRCh37.p13 chr21: 44,888,039-44,888,039 HSF2BP, LINC00313, 2 more genes
    nsv5325208translocation1nstd204human GRCh38.p13 chr21: 6,070,611-6,070,611 , GRCh38.p13 chr21: 43,468,232-43,468,232 , GRCh37.p13 chr21: 44,887,536-44,887,536 , GRCh37.p13 chr21: 44,888,112-44,888,112 HSF2BP, LINC00313, 2 more genes
    nsv5287156copy number variation1nstd204human GRCh38.p13 chr21: 43,034,901-43,571,900 , GRCh37.p13 chr21: 44,455,011-44,991,781 , HSF2BP, 18 more genes
    nsv4756359insertion1nstd199human GRCh37 chr21: 44,888,051-44,888,051 , GRCh38.p12 chr21: 43,468,171-43,468,171 HSF2BP, LINC00313
    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
    nsv4729811copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,717,197-44,926,001 , GRCh38.p12 chr21: 43,297,317-43,506,121 LOC102723380, LINC00313, 6 more genes
    nsv4682475copy number variation1nstd102humanPathogenic GRCh37 chr21: 44,836,602-45,629,566 , GRCh38.p12 chr21: 43,416,722-44,209,683 LINC00313, LOC105372826, 27 more genes
    nsv4682183copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 44,838,120-45,629,566 , GRCh38.p12 chr21: 43,418,240-44,209,683 RRP1, LINC00313, 27 more genes
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 DNMT3L-AS1, WDR4, 100 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
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
    nsv4676372copy number variation1nstd102humanPathogenic GRCh37 chr21: 39,410,438-45,171,756 , GRCh38.p12 chr21: 38,038,136-43,751,875 KCNJ15, SPATA20P1, 126 more genes
    nsv4676330copy number variation1nstd102humanLikely benign GRCh37 chr21: 44,620,109-44,958,565 , GRCh38.p12 chr21: 43,199,999-43,538,685 HSF2BP, LINC00319, 6 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 SLC19A1, LINC03039, 183 more genes
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