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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5919852copy number variation1nstd209human GRCh38 chr12: 14,880,188-14,880,274 , GRCh37.p13 chr12: 15,033,122-15,033,208 MGP
    nsv5701781mobile element insertion1nstd211human GRCh38 chr12: 14,884,769-14,884,769 , GRCh37.p13 chr12: 15,037,703-15,037,703 MGP
    nsv5414258mobile element insertion1nstd206human GRCh38 chr12: 14,884,769-14,884,820 , GRCh37.p13 chr12: 15,037,703-15,037,754 MGP
    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
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 more genes
    nsv4675174copy number variation1nstd102humanPathogenic GRCh37 chr12: 11,737,824-16,780,886 , GRCh38.p12 chr12: 11,584,890-16,627,952 LOC107001063, RN7SKP162, 89 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
    nsv4511493mobile element insertion1nstd166human GRCh37.p13 chr12: 15,037,689-15,037,689 , GRCh38.p12 chr12: 14,884,755-14,884,755 MGP
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 more genes
    nsv4436483complex substitution1nstd102humanassociation NCBI36 chr12: 13,090,968-16,310,672 , GRCh38.p12 chr12: 13,046,767-16,266,471 , GRCh37.p13 chr12: 13,199,701-16,419,405 ARHGDIB, ART4, 48 more genes
    nsv4436324complex substitution1nstd102humanUncertain significance GRCh38.p12 chr12: 9,922,177-18,648,019 , GRCh37 chr12: 10,074,776-18,800,953 ARHGDIB, ART4, 181 more genes
    nsv4329748inversion1nstd166human GRCh37.p13 chr12: 11,408,826-18,017,850 , GRCh38.p12 chr12: 11,255,910-17,864,916 , ARHGDIB, 116 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
    nsv4198308copy number variation1nstd166human GRCh37.p13 chr12: 15,033,114-15,033,239 , GRCh38.p12 chr12: 14,880,180-14,880,305 MGP
    nsv3959643copy number variation1nstd168human GRCh38 chr12: 14,885,783-14,892,966 , GRCh37.p13 chr12: 15,038,717-15,045,900 MGP
    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
    nsv3919221copy number variation1nstd102humanPathogenic GRCh38 chr12: 12,363,649-15,280,588 , NCBI36 chr12: 12,405,989-15,324,789 , GRCh37 chr12: 12,514,722-15,433,522 CDKN1B, STX8P1, 59 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
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