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Items: 1 to 20 of 232

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5701666mobile element insertion1nstd211human GRCh38 chr12: 57,130,852-57,130,852 , GRCh37.p13 chr12: 57,524,635-57,524,635 LRP1
    nsv5644538insertion1nstd207human GRCh38 chr12: 57,191,935-57,191,935 , GRCh37.p13 chr12: 57,585,718-57,585,718 LRP1
    nsv5549566insertion1nstd206human GRCh38 chr12: 57,191,973-57,191,979 , GRCh37.p13 chr12: 57,585,756-57,585,762 LRP1
    nsv5501175copy number variation1nstd206human GRCh38 chr12: 57,207,103-57,207,400 , GRCh37.p13 chr12: 57,600,886-57,601,183 LRP1
    nsv5421350mobile element insertion1nstd206human GRCh38 chr12: 57,130,852-57,130,852 , GRCh37.p13 chr12: 57,524,635-57,524,635 LRP1
    nsv5264759copy number variation1nstd204human GRCh38.p13 chr12: 57,162,418-57,164,517 , GRCh37.p13 chr12: 57,556,201-57,558,300 LRP1
    nsv5121936mobile element insertion1nstd203human GRCh38 chr12: 57,153,876-57,153,890 , GRCh37.p13 chr12: 57,547,659-57,547,673 LRP1
    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
    nsv4972912copy number variation1nstd200human GRCh38 chr12: 57,200,959-57,201,019 , GRCh37.p13 chr12: 57,594,742-57,594,802 LRP1
    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
    nsv4753381insertion1nstd199human GRCh37 chr12: 57,585,675-57,585,675 , GRCh38.p12 chr12: 57,191,892-57,191,892 LRP1
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4675952copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,582,163-59,031,979 , GRCh38.p12 chr12: 57,188,380-58,638,197 CDK4, CYP27B1, 57 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 OR6C71P, METTL1, 183 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
    nsv4194828copy number variation1nstd166human GRCh37.p13 chr12: 57,540,798-57,540,904 , GRCh38.p12 chr12: 57,147,015-57,147,121 LRP1, LRP1-AS
    nsv3933202insertion1nstd167human GRCh37 chr12: 57,585,718-57,585,718 , GRCh38.p12 chr12: 57,191,935-57,191,935 LRP1
    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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