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Items: 1 to 20 of 151

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5938442copy number variation1nstd209human GRCh38 chr12: 53,201,697-53,201,749 , GRCh37.p13 chr12: 53,595,481-53,595,533 ITGB7
    nsv5936926copy number variation1nstd209human GRCh38 chr12: 53,207,820-53,207,937 , GRCh37.p13 chr12: 53,601,604-53,601,721 ITGB7
    nsv5502297copy number variation1nstd206human GRCh38 chr12: 53,207,820-53,207,938 , GRCh37.p13 chr12: 53,601,604-53,601,722 ITGB7
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 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
    nsv4729090copy number variation1nstd102humanUncertain significance GRCh37 chr12: 53,372,321-53,864,490 , GRCh38.p12 chr12: 52,978,537-53,470,706 SPRYD3, ITGB7, 25 more genes
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 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
    nsv4211019copy number variation1nstd166human GRCh37.p13 chr12: 53,595,483-53,595,534 , GRCh38.p12 chr12: 53,201,699-53,201,750 ITGB7
    nsv4208051copy number variation1nstd166human GRCh37.p13 chr12: 53,598,000-53,603,000 , GRCh38.p12 chr12: 53,204,216-53,209,216 RARG, ITGB7
    nsv4201373copy number variation1nstd166human GRCh37.p13 chr12: 53,587,322-53,587,389 , GRCh38.p12 chr12: 53,193,538-53,193,605 ZNF740, ITGB7
    nsv4197589copy number variation1nstd166human GRCh37.p13 chr12: 53,601,604-53,601,722 , GRCh38.p12 chr12: 53,207,820-53,207,938 ITGB7
    nsv3966117insertion1nstd168human GRCh38 chr12: 53,172,408-53,199,294 , GRCh37.p13 chr12: 53,566,192-53,593,078 ITGB7, CSAD, 1 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3917346copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 51,531,901-52,238,875 , GRCh37 chr12: 53,245,634-53,952,608 , GRCh38 chr12: 52,851,850-53,558,824 AMHR2, EIF4B, 35 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
    nsv3912656copy number variation1nstd102humanPathogenic NCBI36 chr12: 48,802,409-51,928,511 , GRCh37 chr12: 50,516,142-53,642,244 , GRCh38 chr12: 50,122,359-53,248,460 KRT86, SLC11A2, 112 more genes
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