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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5939442copy number variation1nstd209human GRCh38 chr12: 110,020,040-110,020,120 , GRCh37.p13 chr12: 110,457,845-110,457,925 ANKRD13A
    nsv5705133mobile element insertion1nstd211human GRCh38 chr12: 110,030,550-110,030,550 , GRCh37.p13 chr12: 110,468,355-110,468,355 ANKRD13A
    nsv5509740copy number variation1nstd206human GRCh38 chr12: 110,004,521-110,008,718 , GRCh37.p13 chr12: 110,442,326-110,446,523 ANKRD13A
    nsv5428881mobile element insertion1nstd206human GRCh38 chr12: 110,013,892-110,013,943 , GRCh37.p13 chr12: 110,451,697-110,451,748 ANKRD13A
    nsv5137214mobile element insertion1nstd203human GRCh38 chr12: 110,008,365-110,008,377 , GRCh37.p13 chr12: 110,446,170-110,446,182 ANKRD13A
    nsv5128063mobile element insertion1nstd203human GRCh38 chr12: 110,013,876-110,013,892 , GRCh37.p13 chr12: 110,451,681-110,451,697 ANKRD13A
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 ATP2A2, CUX2, 115 more genes
    nsv4617215copy number variation1nstd183human GRCh37 chr12: 110,426,679-110,437,242 , GRCh38.p12 chr12: 109,988,874-109,999,437 ANKRD13A, GIT2
    nsv4576393mobile element insertion1nstd166human GRCh37.p13 chr12: 110,467,989-110,467,989 , GRCh38.p12 chr12: 110,030,184-110,030,184 ANKRD13A
    nsv4575797mobile element insertion1nstd166human GRCh37.p13 chr12: 110,461,933-110,461,933 , GRCh38.p12 chr12: 110,024,128-110,024,128 ANKRD13A
    nsv4505267mobile element insertion1nstd166human GRCh37.p13 chr12: 110,451,681-110,451,681 , GRCh38.p12 chr12: 110,013,876-110,013,876 ANKRD13A
    nsv4456010copy number variation1nstd102humanUncertain significance GRCh37 chr12: 110,469,128-110,620,661 , GRCh38.p12 chr12: 110,031,323-110,182,856 IFT81, C12orf76, 2 more genes
    nsv4224114copy number variation1nstd166human GRCh37.p13 chr12: 110,470,930-110,471,003 , GRCh38.p12 chr12: 110,033,125-110,033,198 ANKRD13A
    nsv4218779copy number variation1nstd166human GRCh37.p13 chr12: 110,359,215-110,485,290 , GRCh38.p12 chr12: 109,921,410-110,047,485 GIT2, ANKRD13A, 1 more genes
    nsv3916234copy number variation1nstd102humanPathogenic NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686 LOC100287944, PWP1, 141 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
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