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Items: 1 to 20 of 2203

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673584copy number variation1nstd102humanPathogenic GRCh37 chr5: 178,699,902-178,772,339 , GRCh38.p12 chr5|NW_016107298.1: 37,608-110,045 , GRCh38.p12 chr5: 179,272,901-179,345,338 ADAMTS2, LOC105377759
    nsv5389164copy number variation2nstd186human GRCh37 chr5: 179,056,109-179,056,894 , GRCh38.p12 chr5: 179,629,108-179,629,893 , GRCh38.p12 chr5|NW_016107298.1: 395,396-396,126 HNRNPH1
    nsv5388880copy number variation1nstd186human GRCh37 chr5: 178,691,866-178,692,061 , GRCh38.p12 chr5: 179,264,865-179,265,060 , GRCh38.p12 chr5|NW_016107298.1: 29,572-29,767 ADAMTS2
    nsv5388492copy number variation1nstd186human GRCh37 chr5: 178,740,303-178,740,527 , GRCh38.p12 chr5: 179,313,302-179,313,526 , GRCh38.p12 chr5|NW_016107298.1: 78,009-78,233 ADAMTS2
    nsv5388382copy number variation1nstd186human GRCh37 chr5: 178,856,545-178,856,913 , GRCh38.p12 chr5: 179,429,544-179,429,912 , GRCh38.p12 chr5|NW_016107298.1: 194,298-194,494 0
    nsv5388365copy number variation1nstd186human GRCh37 chr5: 178,801,418-178,801,622 , GRCh38.p12 chr5: 179,374,417-179,374,621 , GRCh38.p12 chr5|NW_016107298.1: 139,124-139,328 LOC107986494
    nsv5388265copy number variation1nstd186human GRCh37 chr5: 178,801,467-178,801,800 , GRCh38.p12 chr5: 179,374,466-179,374,799 , GRCh38.p12 chr5|NW_016107298.1: 139,173-139,506 LOC107986494
    nsv5388057copy number variation1nstd186human GRCh37 chr5: 178,936,148-178,937,325 , GRCh38.p12 chr5|NW_016107298.1: 273,805-274,982 , GRCh38.p12 chr5: 179,509,147-179,510,324 LOC100128622
    nsv5385895copy number variation1nstd186human GRCh37 chr5: 178,935,785-178,937,527 , GRCh38.p12 chr5: 179,508,784-179,510,526 , GRCh38.p12 chr5|NW_016107298.1: 273,443-275,184 LOC100128622
    nsv5385771copy number variation1nstd186human GRCh37 chr5: 179,056,136-179,057,178 , GRCh38.p12 chr5|NW_016107298.1: 395,423-396,410 , GRCh38.p12 chr5: 179,629,135-179,630,177 HNRNPH1
    nsv5381980mobile element deletion1nstd186human GRCh37 chr5: 178,672,486-178,672,804 , GRCh38.p12 chr5: 179,245,485-179,245,803 , GRCh38.p12 chr5|NW_016107298.1: 10,192-10,510 ADAMTS2
    nsv5381440copy number variation1nstd102humanUncertain significance GRCh37 chr5: 178,699,902-179,263,603 , GRCh38.p12 chr5: 179,272,901-179,836,603 , GRCh38.p12 chr5|NW_016107298.1: 37,608-602,163 LOC105377762, LOC105377759, 21 more genes
    nsv5381377copy number variation1nstd102humanUncertain significance GRCh37 chr5: 178,770,758-179,263,603 , GRCh38.p12 chr5: 179,343,757-179,836,603 , GRCh38.p12 chr5|NW_016107298.1: 108,464-602,163 LOC100502572, C5orf60, 21 more genes
    nsv5341039translocation1nstd200human GRCh37 chr5: 178,845,535-178,845,535 , GRCh37 chr11: 121,739,489-121,739,489 , GRCh38.p12 chr5|NW_016107298.1: 183,241-183,241 , GRCh38.p12 chr5: 179,418,534-179,418,534 , GRCh38.p12 chr11: 121,868,781-121,868,781 LOC107984402
    nsv5340247translocation1nstd200human GRCh37 chr11: 121,739,498-121,739,498 , GRCh37 chr5: 178,845,333-178,845,333 , GRCh38.p12 chr11: 121,868,790-121,868,790 , GRCh38.p12 chr5: 179,418,332-179,418,332 , GRCh38.p12 chr5|NW_016107298.1: 183,039-183,039 LOC107984402
    nsv5336055translocation1nstd200human GRCh37 chr5: 179,080,409-179,080,409 , GRCh37 chr5: 179,068,309-179,068,309 , GRCh38.p12 chr5|NW_016107298.1: 417,456-417,456 , GRCh38.p12 chr5: 179,641,308-179,641,308 , GRCh38.p12 chr5: 179,653,408-179,653,408 , GRCh38.p12 chr5|NW_016107298.1: 405,366-405,366 C5orf60, LOC100502572
    nsv4828417copy number variation1nstd200human GRCh37 chr5: 179,178,129-179,180,035 , GRCh38.p12 chr5|NW_016107298.1: 516,714-518,638 , GRCh38.p12 chr5: 179,751,128-179,753,034 MAML1
    nsv4828416copy number variation1nstd200human GRCh37 chr5: 179,056,109-179,056,894 , GRCh38.p12 chr5: 179,629,108-179,629,893 , GRCh38.p12 chr5|NW_016107298.1: 395,396-396,126 HNRNPH1
    nsv4828415copy number variation1nstd200human GRCh37 chr5: 178,858,816-178,885,102 , GRCh38.p12 chr5|NW_016107298.1: 196,395-222,740 , GRCh38.p12 chr5: 179,431,815-179,458,101
    nsv4828414copy number variation1nstd200human GRCh37 chr5: 178,857,558-178,875,930 , GRCh38.p12 chr5: 179,430,557-179,448,929 , GRCh38.p12 chr5|NW_016107298.1: 195,139-213,515 0
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