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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5907685copy number variation1nstd209human GRCh38 chr12: 12,874,337-12,874,398 , GRCh37.p13 chr12: 13,027,271-13,027,332 , RPL13AP20
    nsv5507414copy number variation1nstd206human GRCh38 chr12: 12,874,339-12,874,399 , GRCh37.p13 chr12: 13,027,273-13,027,333 , RPL13AP20
    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
    nsv4840227copy number variation1nstd200human GRCh37 chr12: 12,972,882-13,034,686 , GRCh38.p12 chr12: 12,819,948-12,881,752 , DDX47, 4 more genes
    nsv4682144copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr12: 12,869,936-14,135,064 , GRCh38.p12 chr12: 12,717,002-13,982,130 GPR19, EMP1, 26 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
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 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
    nsv4350818copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,216-15,001,420 , GRCh38.p12 chr12: 80,050-14,848,486 LOC107984495, KLRC1, 432 more genes
    nsv4350159copy number variation1nstd102humanPathogenic GRCh37 chr12: 10,336,209-13,535,349 , GRCh38.p12 chr12: 10,183,610-13,382,415 CREBL2, TAS2R18P, 103 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
    nsv4209823copy number variation1nstd166human GRCh37.p13 chr12: 13,028,557-13,032,764 , GRCh38.p12 chr12: 12,875,623-12,879,830 RPL13AP20
    nsv4202554copy number variation1nstd166human GRCh37.p13 chr12: 13,027,273-13,027,333 , GRCh38.p12 chr12: 12,874,339-12,874,399 , RPL13AP20
    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
    nsv3922152copy number variation1nstd102humanPathogenic NCBI36 chr12: 11,113,226-14,291,577 , GRCh37.p13 chr12: 11,221,959-14,400,310 , GRCh38.p12 chr12: 11,069,360-14,247,376 PRH1-TAS2R14, RPL37AP9, 69 more genes
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