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Items: 1 to 20 of 213

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5621596insertion1nstd207human GRCh38 chr2: 28,785,065-28,785,065 , GRCh37.p13 chr2: 29,007,931-29,007,931 PPP1CB
    nsv5075122mobile element insertion1nstd203human GRCh38 chr2: 28,750,556-28,750,563 , GRCh37.p13 chr2: 28,973,422-28,973,429 PPP1CB-DT, PPP1CB
    nsv5072365mobile element insertion1nstd203human GRCh38 chr2: 28,785,065-28,785,093 , GRCh37.p13 chr2: 29,007,931-29,007,959 PPP1CB
    nsv5071644mobile element insertion1nstd203human GRCh38 chr2: 28,750,553-28,750,563 , GRCh37.p13 chr2: 28,973,419-28,973,429 PPP1CB-DT, PPP1CB
    nsv4775926copy number variation1nstd200human GRCh37 chr2: 29,009,490-29,010,133 , GRCh38.p12 chr2: 28,786,624-28,787,267 PPP1CB
    nsv4674305copy number variation1nstd102humanUncertain significance GRCh37 chr2: 28,387,514-29,616,031 , GRCh38.p12 chr2: 28,164,647-29,393,165 BABAM2, FOSL2, 27 more genes
    nsv4583832copy number variation1nstd183human GRCh37 chr2: 29,022,027-29,025,530 , GRCh38.p12 chr2: 28,799,161-28,802,664 PPP1CB
    nsv4466441mobile element insertion1nstd166human GRCh37.p13 chr2: 28,973,419-28,973,419 , GRCh38.p12 chr2: 28,750,553-28,750,553 PPP1CB-DT, PPP1CB
    nsv4454993copy number variation1nstd102humanUncertain significance GRCh37 chr2: 28,980,521-29,300,911 , GRCh38.p12 chr2: 28,757,655-29,078,045 SNORD53B, PCARE, 7 more genes
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv3919769copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,776,056-33,845,581 , GRCh37.p13 chr2: 22,922,551-33,992,077 , GRCh38.p12 chr2: 22,699,679-33,767,010 RNA5SP88, EIF2B4, 213 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
    nsv3908038copy number variation1nstd102humanPathogenic GRCh37 chr2: 12,770-33,936,576 , NCBI36 chr2: 2,770-33,790,080 , GRCh38 chr2: 12,770-33,711,509 LOC105373394, PGAM1P6, 507 more genes
    nsv3906963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 28,633,816-29,514,013 , GRCh37 chr2: 28,780,312-29,660,509 , GRCh38 chr2: 28,557,445-29,437,643 PPP1CB, TRMT61B, 16 more genes
    nsv3906875copy number variation1nstd102humanUncertain significance GRCh37 chr2: 28,796,978-29,665,061 , GRCh38 chr2: 28,574,111-29,442,195 , NCBI36 chr2: 28,650,482-29,518,565 LOC105374386, TRMT61B, 16 more genes
    nsv3905458copy number variation1nstd102humanUncertain significance GRCh38 chr2: 28,561,270-29,446,956 , NCBI36 chr2: 28,637,641-29,523,326 , GRCh37 chr2: 28,784,137-29,669,822 PLB1, TOGARAM2, 16 more genes
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