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Items: 1 to 20 of 175

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6131678insertion1nstd186human GRCh37 chr12: 95,870,315-95,870,315 , GRCh38.p12 chr12: 95,476,539-95,476,539 METAP2
    nsv5979859insertion1nstd209human GRCh38 chr12: 95,476,532-95,476,532 , GRCh37.p13 chr12: 95,870,308-95,870,308 METAP2
    nsv5934809copy number variation1nstd209human GRCh38 chr12: 95,477,892-95,477,963 , GRCh37.p13 chr12: 95,871,668-95,871,739 METAP2
    nsv5664411insertion1nstd207human GRCh38 chr12: 95,476,532-95,476,532 , GRCh37.p13 chr12: 95,870,308-95,870,308 METAP2
    nsv5553884insertion1nstd206human GRCh38 chr12: 95,476,539-95,476,539 , GRCh37.p13 chr12: 95,870,315-95,870,315 METAP2
    nsv5503939copy number variation1nstd206human GRCh38 chr12: 95,505,791-95,506,535 , GRCh37.p13 chr12: 95,899,567-95,900,311 METAP2
    nsv5138233mobile element insertion1nstd203human GRCh38 chr12: 95,516,088-95,516,092 , GRCh37.p13 chr12: 95,909,864-95,909,868 USP44, METAP2
    nsv5125399mobile element insertion1nstd203human GRCh38 chr12: 95,516,080-95,516,095 , GRCh37.p13 chr12: 95,909,856-95,909,871 METAP2, USP44
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 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
    nsv4553022insertion1nstd166human GRCh37.p13 chr12: 95,909,856-95,909,856 , GRCh38.p12 chr12: 95,516,080-95,516,080 USP44, METAP2
    nsv4502052mobile element insertion1nstd166human GRCh37.p13 chr12: 95,889,196-95,889,196 , GRCh38.p12 chr12: 95,495,420-95,495,420 METAP2
    nsv4441826insertion1nstd175human GRCh37 chr12: 95,870,308-95,870,308 , GRCh38.p12 chr12: 95,476,532-95,476,532 METAP2
    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
    nsv3926494insertion1nstd167human GRCh37 chr12: 95,870,308-95,870,308 , GRCh38.p12 chr12: 95,476,532-95,476,532 METAP2
    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
    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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