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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5495915copy number variation1nstd206human GRCh38 chr12: 8,922,128-8,922,353 , GRCh37.p13 chr12: 9,074,724-9,074,949 PHC1
    nsv5323122inversion1nstd204human GRCh37.p13 chr12: 6,338,815-22,046,498 , GRCh38.p13 chr12: 6,229,649-21,893,564 , A2M, 414 more genes
    nsv5029743inversion1nstd200human GRCh38 chr12: 7,297,013-15,308,349 , GRCh37.p13 chr12: 7,449,609-15,461,283 , MIR1244-4, 259 more genes
    nsv4972140copy number variation1nstd200human GRCh38 chr12: 8,927,071-8,928,673 , GRCh37.p13 chr12: 9,079,667-9,081,269 PHC1
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 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
    nsv4616824copy number variation1nstd183human GRCh37 chr12: 8,488,721-9,625,223 , GRCh38.p12 chr12: 8,336,125-9,472,627 , BTG1P1, 43 more genes
    nsv4610768copy number variation1nstd183human GRCh37 chr12: 9,062,520-9,067,251 , GRCh38.p12 chr12: 8,909,924-8,914,655 PHC1
    nsv4609310copy number variation2nstd183human GRCh37 chr12: 9,067,206-9,067,251 , GRCh38.p12 chr12: 8,914,610-8,914,655 PHC1
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 more genes
    nsv4455054copy number variation1nstd102humanUncertain significance GRCh37 chr12: 8,966,269-9,289,695 , GRCh38.p12 chr12: 8,813,673-9,137,099 M6PR, A2M, 8 more genes
    nsv4350818copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,216-15,001,420 , GRCh38.p12 chr12: 80,050-14,848,486 LOC107984495, KLRC1, 432 more genes
    nsv4324171inversion1nstd166human GRCh37.p13 chr12: 6,338,819-22,046,498 , GRCh38.p12 chr12: 6,229,653-21,893,564 , APOBEC1, 414 more genes
    nsv3971839copy number variation1nstd102humannot provided GRCh38 chr12: 1-9,000,000 , GRCh37.p13 chr12: 282,465-9,152,596 RNU4ATAC16P, RNU6-174P, 257 more genes
    nsv3924262copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,835,837 , GRCh38 chr12: 64,620-34,682,902 , NCBI36 chr12: 44,047-34,727,104 ENO2, SLC6A13, 684 more genes
    nsv3922178copy number variation1nstd102humanPathogenic GRCh37 chr12: 2,980,907-15,140,282 , NCBI36 chr12: 2,851,168-15,031,549 , GRCh38 chr12: 2,871,741-14,987,348 H2AJ, GPR162, 378 more genes
    nsv3919557copy number variation1nstd102humanPathogenic NCBI36 chr12: 59,934-11,147,715 , GRCh37.p13 chr12: 189,673-11,256,448 , GRCh38.p12 chr12: 80,507-11,103,849 ING4, LINC02827, 350 more genes
    nsv3918302copy number variation1nstd102humanPathogenic GRCh38 chr12: 80,412-25,470,329 , GRCh37 chr12: 282,465-25,623,263 , NCBI36 chr12: 59,839-25,514,530 MIR3974, RPL13P5, 558 more genes
    nsv3917488copy number variation1nstd102humanPathogenic NCBI36 chr12: 192,403-33,971,115 , GRCh37 chr12: 322,142-34,079,848 , GRCh38 chr12: 212,976-33,926,913 LOC374443, LINC00937, 674 more genes
    nsv3917465copy number variation1nstd102humanUncertain significance GRCh37 chr12: 8,991,626-9,286,900 , GRCh38 chr12: 8,839,030-9,134,304 , NCBI36 chr12: 8,882,893-9,178,167 BTG1P1, LINC00612, 8 more genes
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