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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
    nsv5940510copy number variation1nstd209human GRCh38 chr12: 91,109,722-91,219,266 , GRCh37.p13 chr12: 91,503,499-91,613,043 LUM, DCN
    nsv5860009copy number variation1nstd209human GRCh38 chr12: 91,097,304-91,102,124 , GRCh37.p13 chr12: 91,491,081-91,495,901 LUM
    nsv5858920copy number variation1nstd209human GRCh38 chr12: 91,109,630-91,114,129 , GRCh37.p13 chr12: 91,503,407-91,507,906 LUM
    nsv5853793copy number variation1nstd209human GRCh38 chr12: 91,105,600-91,108,079 , GRCh37.p13 chr12: 91,499,377-91,501,856 LUM
    nsv5356242translocation1nstd200human GRCh38 chr12: 91,093,305-91,093,305 , GRCh38 chr12: 91,101,023-91,101,023 , GRCh37.p13 chr12: 91,494,800-91,494,800 , GRCh37.p13 chr12: 91,487,082-91,487,082 LUM
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 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
    nsv4729322copy number variation1nstd102humanUncertain significance GRCh37 chr12: 90,629,021-91,543,515 , GRCh38.p12 chr12: 90,235,244-91,149,738 DCN, LINC00615, 8 more genes
    nsv4503550mobile element insertion1nstd166human GRCh37.p13 chr12: 91,497,527-91,497,527 , GRCh38.p12 chr12: 91,103,750-91,103,750 LUM
    nsv4456763copy number variation1nstd102humanPathogenic GRCh37 chr12: 77,737,623-94,330,526 , GRCh38.p12 chr12: 77,343,843-93,936,750 MIR1252, PLEKHG7, 162 more genes
    nsv4345788sequence alteration1nstd166human GRCh37.p13 chr12: 59,785,153-101,478,055 , GRCh38.p12 chr12: 59,391,372-101,084,277 , APAF1, 538 more genes
    nsv4325802inversion1nstd166human GRCh37.p13 chr12: 70,180,810-110,320,028 , GRCh38.p12 chr12: 69,787,030-109,882,223 , APAF1, 540 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3924338copy number variation1nstd102humanPathogenic NCBI36 chr12: 89,962,226-108,055,398 , GRCh38 chr12: 91,044,318-109,133,210 , GRCh37 chr12: 91,438,095-109,571,015 NUP37, TTC41P, 295 more genes
    nsv3922777copy number variation1nstd102humanPathogenic GRCh37 chr12: 73,879,477-93,189,581 , NCBI36 chr12: 72,165,744-91,713,712 , GRCh38 chr12: 73,485,697-92,795,805 RN7SL734P, POC1B-AS1, 195 more genes
    nsv3920080copy number variation1nstd102humanUncertain significance NCBI36 chr12: 89,115,205-90,156,912 , GRCh38 chr12: 90,197,297-91,239,004 , GRCh37 chr12: 90,591,074-91,632,781 KERA, LINC02822, 8 more genes
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