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Items: 1 to 20 of 261

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5939190copy number variation1nstd209human GRCh38 chr16: 28,301,026-28,301,081 , GRCh37.p13 chr16: 28,312,347-28,312,402 SBK1
    nsv5516767copy number variation1nstd206human GRCh38 chr16: 28,301,029-28,301,082 , GRCh37.p13 chr16: 28,312,350-28,312,403 SBK1
    nsv5338585translocation1nstd200human GRCh37 chr16: 28,307,365-28,307,365 , GRCh37 chr16: 28,307,067-28,307,067 , GRCh38.p12 chr16: 28,295,746-28,295,746 , GRCh38.p12 chr16: 28,296,044-28,296,044 SBK1
    nsv5321556translocation1nstd204human GRCh38.p13 chr16: 28,295,746-28,295,746 , GRCh38.p13 chr16: 28,296,044-28,296,044 , GRCh37.p13 chr16: 28,307,067-28,307,067 , GRCh37.p13 chr16: 28,307,365-28,307,365 SBK1
    nsv5193438mobile element insertion1nstd203human GRCh38 chr16: 28,274,651-28,274,679 , GRCh37.p13 chr16: 28,285,972-28,286,000 SBK1
    nsv5151870mobile element insertion1nstd203human GRCh38 chr16: 28,287,098-28,287,149 , GRCh37.p13 chr16: 28,298,419-28,298,470 SBK1
    nsv5147781mobile element insertion1nstd203human GRCh38 chr16: 28,287,286-28,287,299 , GRCh37.p13 chr16: 28,298,607-28,298,620 SBK1
    nsv4994600copy number variation1nstd200human GRCh38 chr16: 28,265,771-28,274,591 , GRCh37.p13 chr16: 28,277,092-28,285,912 SBK1
    nsv4994598copy number variation1nstd200human GRCh38 chr16: 28,116,939-28,259,276 , GRCh37.p13 chr16: 28,128,260-28,270,597 SBK1, XPO6, 2 more genes
    nsv4856739copy number variation1nstd200human GRCh37 chr16: 28,276,371-28,276,481 , GRCh38.p12 chr16: 28,265,050-28,265,160 SBK1
    nsv4786059mobile element deletion1nstd200human GRCh37 chr16: 28,267,724-28,268,022 , GRCh38.p12 chr16: 28,256,403-28,256,701 SBK1
    nsv4743285copy number variation1nstd199human GRCh37 chr16: 28,334,220-28,334,289 , GRCh38.p12 chr16: 28,322,899-28,322,968 SBK1
    nsv4729901copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,959,279-30,190,593 , GRCh38.p12 chr16: 2,909,278-30,179,272 NPIPB9, TMEM219, 597 more genes
    nsv4685985copy number variation1nstd102humanPathogenic GRCh37 chr16: 5,805,001-34,230,001 , GRCh38.p12 chr16: 5,755,000-34,995,630 LOC105371069, PKD1P6-NPIPP1, 654 more genes
    nsv4685761copy number variation1nstd102humannot provided GRCh37 chr16: 21,312,200-29,646,379 , GRCh38.p12 chr16: 21,300,879-29,635,058 NUPR1, TNRC6A, 176 more genes
    nsv4675970copy number variation1nstd102humanPathogenic GRCh37 chr16: 21,576,802-29,351,826 , GRCh38.p12 chr16: 21,565,481-29,340,505 NSMCE1, LOC105371149, 152 more genes
    nsv4436312complex substitution1nstd102humanPathogenic GRCh38.p12 chr16: 1,230,041-33,908,091 , GRCh37 chr16: 1,280,042-33,710,558 ABAT, ABCA3, 876 more genes
    nsv4387837copy number variation3nstd173human GRCh37 chr16: 28,128,093-28,271,103 , GRCh38.p12 chr16: 28,116,772-28,259,782 SBK1, XPO6, 2 more genes
    nsv4386074copy number variation1nstd173human GRCh37 chr16: 28,120,654-28,271,103 , GRCh38.p12 chr16: 28,109,333-28,259,782 RNY1P10, XPO6, 3 more genes
    nsv4322553inversion1nstd166human GRCh37.p13 chr16: 16,634,964-31,736,102 , GRCh38.p12 chr16: 16,541,107-31,724,781 , ALDOA, 403 more genes
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