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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5979743insertion1nstd209human GRCh38 chr16: 56,518,771-56,518,771 , GRCh37.p13 chr16: 56,552,683-56,552,683 BBS2
    nsv5968794insertion1nstd209human GRCh38 chr16: 56,480,365-56,480,365 , GRCh37.p13 chr16: 56,514,277-56,514,277 BBS2
    nsv5711975mobile element insertion1nstd211human GRCh38 chr16: 56,491,746-56,491,746 , GRCh37.p13 chr16: 56,525,658-56,525,658 BBS2
    nsv5662822insertion1nstd207human GRCh38 chr16: 56,518,771-56,518,771 , GRCh37.p13 chr16: 56,552,683-56,552,683 BBS2
    nsv5522837copy number variation1nstd206human GRCh38 chr16: 56,476,685-56,476,834 , GRCh37.p13 chr16: 56,510,597-56,510,746 OGFOD1, BBS2
    nsv5008358copy number variation1nstd200human GRCh38 chr16: 56,507,931-56,509,389 , GRCh37.p13 chr16: 56,541,843-56,543,301 BBS2
    nsv5008357copy number variation1nstd200human GRCh38 chr16: 56,494,821-56,501,100 , GRCh37.p13 chr16: 56,528,733-56,535,012 BBS2
    nsv4749427copy number variation1nstd199human GRCh37 chr16: 29,238,132-88,226,311 , GRCh38.p12 chr16: 29,226,811-88,192,705 , ITGAM, 1076 more genes
    nsv4643180copy number variation2nstd186human GRCh37 chr16: 56,552,617-56,552,679 , GRCh38.p12 chr16: 56,518,705-56,518,767 BBS2
    nsv4571882mobile element insertion1nstd166human GRCh37.p13 chr16: 56,550,463-56,550,463 , GRCh38.p12 chr16: 56,516,551-56,516,551 BBS2
    nsv4543739insertion1nstd166human GRCh37.p13 chr16: 56,537,175-56,537,175 , GRCh38.p12 chr16: 56,503,263-56,503,263 BBS2
    nsv4532019copy number variation1nstd166human GRCh37.p13 chr16: 56,552,617-56,552,679 , GRCh38.p12 chr16: 56,518,705-56,518,767 BBS2
    nsv4456077copy number variation1nstd102humanUncertain significance GRCh37 chr16: 53,455,650-64,006,604 , GRCh38.p12 chr16: 53,421,738-63,972,700 MT1DP, RPL23AP91, 167 more genes
    nsv4436581complex substitution1nstd102humanUncertain significance GRCh38.p12 chr16: 56,334,777-90,074,947 , GRCh37 chr16: 56,368,689-90,141,355 AARS1, AP1G1, 662 more genes
    nsv4367933copy number variation1nstd173human GRCh37 chr16: 55,822,788-62,090,267 , GRCh38.p12 chr16: 55,788,876-62,056,363 , RN7SL645P, 124 more genes
    nsv4365186copy number variation1nstd173human GRCh37 chr16: 46,503,205-57,376,253 , GRCh38.p12 chr16: 46,469,293-57,342,341 , TOX3, 210 more genes
    nsv4235597copy number variation1nstd166human GRCh37.p13 chr16: 56,550,425-56,550,492 , GRCh38.p12 chr16: 56,516,513-56,516,580 BBS2
    nsv4234776copy number variation1nstd166human GRCh37.p13 chr16: 56,549,953-56,550,638 , GRCh38.p12 chr16: 56,516,041-56,516,726 BBS2
    nsv3965359copy number variation1nstd168human GRCh38 chr16: 56,432,271-56,498,921 , GRCh37.p13 chr16: 56,466,183-56,532,833 NUDT21, OGFOD1, 1 more genes
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