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Items: 1 to 20 of 207

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv5921920copy number variation1nstd209human GRCh38 chr12: 3,058,695-6,171,259 , GRCh37.p13 chr12: 3,167,861-6,280,425 , LOC105369623, 54 more genes
    nsv5703573mobile element insertion1nstd211human GRCh38 chr12: 4,510,905-4,510,905 , GRCh37.p13 chr12: 4,620,071-4,620,071 C12orf4
    nsv5699731mobile element insertion2nstd211human GRCh38 chr12: 4,533,870-4,533,870 , GRCh37.p13 chr12: 4,643,036-4,643,036 C12orf4
    nsv5697548mobile element insertion2nstd211human GRCh38 chr12: 4,531,056-4,531,056 , GRCh37.p13 chr12: 4,640,222-4,640,222 C12orf4
    nsv5414828mobile element insertion1nstd206human GRCh38 chr12: 4,533,870-4,533,921 , GRCh37.p13 chr12: 4,643,036-4,643,087 C12orf4
    nsv5414048mobile element insertion1nstd206human GRCh38 chr12: 4,531,056-4,531,107 , GRCh37.p13 chr12: 4,640,222-4,640,273 C12orf4
    nsv5381764copy number variation1nstd102humanPathogenic GRCh37 chr12: 3,619,010-5,221,363 , GRCh38.p12 chr12: 3,509,844-5,112,197 OTUD4P1, LOC105369612, 30 more genes
    nsv5380741copy number variation1nstd102humanUncertain significance GRCh37 chr12: 4,479,509-6,235,003 , GRCh38.p12 chr12: 4,370,343-6,125,837 ANO2, LOC105369617, 25 more genes
    nsv5303117copy number variation1nstd204human GRCh38.p13 chr12: 4,517,595-4,518,831 , GRCh37.p13 chr12: 4,626,761-4,627,997 C12orf4
    nsv5267766copy number variation1nstd204human GRCh38.p13 chr12: 4,517,601-4,518,800 , GRCh37.p13 chr12: 4,626,767-4,627,966 C12orf4
    nsv5136112mobile element insertion1nstd203human GRCh38 chr12: 4,531,042-4,531,056 , GRCh37.p13 chr12: 4,640,208-4,640,222 C12orf4
    nsv5132962mobile element insertion1nstd203human GRCh38 chr12: 4,500,972-4,500,993 , GRCh37.p13 chr12: 4,610,138-4,610,159 C12orf4
    nsv5128847mobile element insertion1nstd203human GRCh38 chr12: 4,528,335-4,528,349 , GRCh37.p13 chr12: 4,637,501-4,637,515 C12orf4
    nsv4971933copy number variation1nstd200human GRCh38 chr12: 4,517,618-4,518,810 , GRCh37.p13 chr12: 4,626,784-4,627,976 C12orf4
    nsv4729176copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,242-4,683,495 , GRCh38.p12 chr12: 82,076-4,574,329 RPL18P9, CACNA1C, 92 more genes
    nsv4686000delins1nstd102humanLikely pathogenic GRCh38 chr12: 4,517,618-4,518,810 , GRCh37 chr12: 4,626,784-4,627,976 C12orf4
    nsv4684058copy number variation1nstd102humanPathogenic GRCh37 chr12: 4,599,065-4,645,385 , GRCh38.p12 chr12: 4,489,899-4,536,219 C12orf4
    nsv4679795copy number variation1nstd189human GRCh37.p13 chr12: 4,504,235-4,966,214 , GRCh38.p12 chr12: 4,395,069-4,857,048 , FGF6, 10 more genes
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
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