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Items: 1 to 20 of 395

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6113497mobile element insertion1nstd186human GRCh37 chr21: 42,643,165-42,643,216 , GRCh38.p12 chr21: 41,271,238-41,271,289 BACE2
    nsv5954325copy number variation1nstd209human GRCh38 chr21: 41,244,549-41,244,599 , GRCh37.p13 chr21: 42,616,476-42,616,526 BACE2
    nsv5715779mobile element insertion1nstd211human GRCh38 chr21: 41,239,184-41,239,184 , GRCh37.p13 chr21: 42,611,111-42,611,111 BACE2
    nsv5696497mobile element insertion2nstd211human GRCh38 chr21: 41,271,238-41,271,238 , GRCh37.p13 chr21: 42,643,165-42,643,165 BACE2
    nsv5667286insertion1nstd207human GRCh38 chr21: 41,249,242-41,249,242 , GRCh37.p13 chr21: 42,621,169-42,621,169 BACE2
    nsv5665897insertion1nstd207human GRCh38 chr21: 41,271,224-41,271,224 , GRCh37.p13 chr21: 42,643,151-42,643,151 BACE2
    nsv5591477copy number variation1nstd207human GRCh38 chr21: 41,244,549-41,244,599 , GRCh37.p13 chr21: 42,616,476-42,616,526 BACE2
    nsv5549898copy number variation1nstd206human GRCh38 chr21: 41,216,115-41,216,305 , GRCh37.p13 chr21: 42,588,042-42,588,232 BACE2
    nsv5416754mobile element insertion1nstd206human GRCh38 chr21: 41,271,238-41,271,289 , GRCh37.p13 chr21: 42,643,165-42,643,216 BACE2
    nsv5360304translocation1nstd200human GRCh38 chr21: 41,194,818-41,194,818 , GRCh38 chr21: 41,132,527-41,132,527 , GRCh37.p13 chr21: 42,504,454-42,504,454 , GRCh37.p13 chr21: 42,566,745-42,566,745 BACE2
    nsv5332307translocation1nstd200human GRCh37 chr21: 42,504,454-42,504,454 , GRCh37 chr21: 42,566,745-42,566,745 , GRCh38.p12 chr21: 41,194,818-41,194,818 , GRCh38.p12 chr21: 41,132,527-41,132,527 BACE2
    nsv5175060mobile element insertion1nstd203human GRCh38 chr21: 41,271,224-41,271,238 , GRCh37.p13 chr21: 42,643,151-42,643,165 BACE2
    nsv5038691copy number variation1nstd200human GRCh38 chr21: 41,218,194-41,218,489 , GRCh37.p13 chr21: 42,590,121-42,590,416 BACE2
    nsv5037314copy number variation1nstd200human GRCh38 chr21: 41,080,842-41,187,176 , GRCh37.p13 chr21: 42,452,769-42,559,103 , MIR3197, 3 more genes
    nsv5034921copy number variation1nstd200human GRCh38 chr21: 41,216,115-41,216,305 , GRCh37.p13 chr21: 42,588,042-42,588,232 BACE2
    nsv5033207copy number variation1nstd200human GRCh38 chr21: 41,208,276-41,209,339 , GRCh37.p13 chr21: 42,580,203-42,581,266 BACE2
    nsv5032005copy number variation1nstd200human GRCh38 chr21: 41,210,557-41,212,752 , GRCh37.p13 chr21: 42,582,484-42,584,679 BACE2
    nsv4865869copy number variation1nstd200human GRCh37 chr21: 42,452,769-42,559,103 , GRCh38.p12 chr21: 41,080,842-41,187,176 , MIR3197, 3 more genes
    nsv4763696insertion1nstd199human GRCh37 chr21: 42,621,160-42,621,160 , GRCh38.p12 chr21: 41,249,233-41,249,233 BACE2
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