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Items: 1 to 20 of 349

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148236copy number variation1nstd102humanPathogenic GRCh38 chr16: 28,486,250-28,486,550 , GRCh37.p13 chr16: 28,497,571-28,497,871 CLN3
    nsv7137115copy number variation1nstd102humanPathogenic GRCh37 chr16: 21,467,726-29,044,717 , GRCh38.p12 chr16: 21,456,405-29,033,396 OTOAP1, GGA2, 148 more genes
    nsv7094833copy number variation1nstd102humanPathogenic GRCh37 chr16: 28,493,416-28,494,003 , GRCh38.p12 chr16: 28,482,095-28,482,682 CLN3
    nsv7094832copy number variation1nstd102humanUncertain significance GRCh37 chr16: 28,488,837-28,489,218 , GRCh38.p12 chr16: 28,477,516-28,477,897 CLN3
    nsv7094779copy number variation1nstd102humanPathogenic GRCh37 chr16: 28,495,317-28,500,717 , GRCh38.p12 chr16: 28,483,996-28,489,396 CLN3
    nsv7094777copy number variation1nstd102humanPathogenic GRCh37 chr16: 27,441,393-29,001,333 , GRCh38.p12 chr16: 27,430,072-28,990,012 NUPR1, RPS15AP33, 45 more genes
    nsv7094776copy number variation1nstd102humanUncertain significance GRCh37 chr16: 27,441,393-28,899,063 , GRCh38.p12 chr16: 27,430,072-28,887,742 SH2B1, RNU6-1241P, 39 more genes
    nsv7094576copy number variation1nstd102humanPathogenic GRCh37 chr16: 28,488,827-28,489,208 , GRCh38.p12 chr16: 28,477,506-28,477,887 CLN3
    nsv7077421inversion1nstd229human GRCh38 chr16: 28,490,803-28,495,598 , GRCh37.p13 chr16: 28,502,124-28,506,919 APOBR, CLN3
    nsv7076222inversion1nstd229human GRCh38 chr16: 28,418,032-28,817,928 , GRCh37.p13 chr16: 28,429,353-28,829,249 IL27, SULT1A2, 14 more genes
    nsv7075503inversion1nstd229human GRCh38 chr16: 28,308,012-28,537,165 , GRCh37.p13 chr16: 28,319,333-28,548,486 NPIPB6, CDC37P2, 8 more genes
    nsv7075349inversion1nstd229human GRCh38 chr16: 28,476,063-28,476,505 , GRCh37.p13 chr16: 28,487,384-28,487,826 CLN3
    nsv7070950inversion1nstd229human GRCh38 chr16: 28,377,390-28,737,947 , GRCh37.p13 chr16: 28,388,711-28,749,268 EIF3C, LOC107984835, 15 more genes
    nsv6996921copy number variation1nstd229human GRCh38 chr16: 28,480,697-28,483,474 , GRCh37.p13 chr16: 28,492,018-28,494,795 CLN3
    nsv6995833copy number variation1nstd229human GRCh38 chr16: 28,488,949-28,489,140 , GRCh37.p13 chr16: 28,500,270-28,500,461 CLN3
    nsv6995006copy number variation1nstd229human GRCh38 chr16: 28,486,218-28,487,053 , GRCh37.p13 chr16: 28,497,539-28,498,374 CLN3
    nsv6989682copy number variation1nstd229human GRCh38 chr16: 28,475,600-28,475,632 , GRCh37.p13 chr16: 28,486,921-28,486,953 CLN3
    nsv6989438copy number variation1nstd229human GRCh38 chr16: 28,488,340-28,504,718 , GRCh37.p13 chr16: 28,499,661-28,516,039 APOBR, CLN3, 1 more genes
    nsv6985672copy number variation1nstd229human GRCh38 chr16: 28,482,601-28,484,200 , GRCh37.p13 chr16: 28,493,922-28,495,521 CLN3
    nsv6981179copy number variation1nstd229human GRCh38 chr16: 28,484,499-28,485,164 , GRCh37.p13 chr16: 28,495,820-28,496,485 CLN3
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