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Items: 1 to 20 of 580

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148169copy number variation1nstd102humanPathogenic GRCh38 chr16: 1,515,602-1,521,308 , GRCh37.p13 chr16: 1,565,603-1,571,309 IFT140
    nsv7098880copy number variation1nstd102humanPathogenic GRCh37 chr16: 811,896-2,130,379 , GRCh38.p12 chr16: 761,896-2,080,378 TPSP1, NPW, 78 more genes
    nsv7094811copy number variation1nstd102humanUncertain significance GRCh37 chr16: 1,496,632-1,561,171 , GRCh38.p12 chr16: 1,446,631-1,511,170 IFT140, CLCN7, 3 more genes
    nsv7094756copy number variation1nstd102humanPathogenic GRCh37 chr16: 1,574,533-1,576,817 , GRCh38.p12 chr16: 1,524,532-1,526,816 IFT140, TMEM204
    nsv7094666copy number variation3nstd102humanUncertain significance GRCh37 chr16: 256,302-4,852,572 , GRCh38.p12 chr16: 206,303-4,802,571 DNAAF8, TMEM204, 282 more genes
    nsv7094665copy number variation1nstd102humanUncertain significance GRCh37 chr16: 256,302-1,918,176 , GRCh38.p12 chr16: 206,303-1,868,175 MRPS34, LOC105371044, 97 more genes
    nsv7094664copy number variation1nstd102humanUncertain significance GRCh37 chr16: 256,302-1,843,653 , GRCh38.p12 chr16: 206,303-1,793,652 NME4, UNKL, 94 more genes
    nsv7094663copy number variation2nstd102humanPathogenic GRCh37 chr16: 256,302-1,657,267 , GRCh38.p12 chr16: 206,303-1,607,266 TPSP2, PRR25, 83 more genes
    nsv7094653copy number variation1nstd102humanPathogenic GRCh37 chr16: 1,618,198-1,618,355 , GRCh38.p12 chr16: 1,568,197-1,568,354 IFT140
    nsv7094652copy number variation1nstd102humanUncertain significance GRCh37 chr16: 1,607,916-1,618,355 , GRCh38.p12 chr16: 1,557,915-1,568,354 IFT140
    nsv7073654inversion1nstd229human GRCh38 chr16: 840,992-1,785,906 , GRCh37.p13 chr16: 890,992-1,835,907 UBE2I, CRAMP1, 45 more genes
    nsv7071652inversion1nstd229human GRCh38 chr16: 1,587,593-1,595,266 , GRCh37.p13 chr16: 1,637,594-1,645,267 IFT140, LOC105371046
    nsv7065492inversion1nstd229human GRCh38 chr16: 1,465,870-1,519,078 , GRCh37.p13 chr16: 1,515,871-1,569,079 RPS3AP2, IFT140, 3 more genes
    nsv7064563inversion1nstd229human GRCh38 chr16: 1,279,128-1,693,078 , GRCh37.p13 chr16: 1,329,129-1,743,079 UNKL, CRAMP1, 20 more genes
    nsv6977654copy number variation1nstd229human GRCh38 chr16: 1,592,232-1,728,113 , GRCh37.p13 chr16: 1,642,233-1,778,114 MAPK8IP3-AS1, JPT2, 4 more genes
    nsv6977267copy number variation1nstd229human GRCh38 chr16: 1,515,401-1,578,400 , GRCh37.p13 chr16: 1,565,402-1,628,401 TMEM204, IFT140
    nsv6977021copy number variation1nstd229human GRCh38 chr16: 1,516,384-1,520,183 , GRCh37.p13 chr16: 1,566,385-1,570,184 IFT140
    nsv6976569copy number variation1nstd229human GRCh38 chr16: 1,555,623-1,560,292 , GRCh37.p13 chr16: 1,605,624-1,610,293 TMEM204, IFT140
    nsv6974968copy number variation1nstd229human GRCh38 chr16: 1,601,033-1,608,927 , GRCh37.p13 chr16: 1,651,034-1,658,928 LOC105371046, IFT140
    nsv6972561copy number variation1nstd229human GRCh38 chr16: 1,535,001-1,538,300 , GRCh37.p13 chr16: 1,585,002-1,588,301 IFT140, TMEM204
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