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Items: 1 to 20 of 253

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5721571mobile element insertion2nstd211human GRCh38 chr1: 184,689,370-184,689,370 , GRCh37.p13 chr1: 184,658,504-184,658,504 EDEM3
    nsv5565842copy number variation1nstd207human GRCh38 chr1: 184,720,503-184,720,620 , GRCh37.p13 chr1: 184,689,637-184,689,754 EDEM3
    nsv5453150copy number variation1nstd206human GRCh38 chr1: 184,720,513-184,720,621 , GRCh37.p13 chr1: 184,689,647-184,689,755 EDEM3
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5285766copy number variation1nstd204human GRCh38.p13 chr1: 184,726,673-184,727,930 , GRCh37.p13 chr1: 184,695,807-184,697,064 EDEM3
    nsv5204082mobile element deletion1nstd204human GRCh38.p13 chr1: 184,720,503-184,720,628 , GRCh37.p13 chr1: 184,689,637-184,689,762 EDEM3
    nsv5072221mobile element insertion1nstd203human GRCh38 chr1: 184,695,042-184,695,048 , GRCh37.p13 chr1: 184,664,176-184,664,182 EDEM3
    nsv4906685copy number variation1nstd200human GRCh38 chr1: 184,742,138-184,744,281 , GRCh37.p13 chr1: 184,711,272-184,713,415 EDEM3
    nsv4906684copy number variation1nstd200human GRCh38 chr1: 184,726,696-184,727,909 , GRCh37.p13 chr1: 184,695,830-184,697,043 EDEM3
    nsv4904099copy number variation1nstd200human GRCh38 chr1: 184,750,573-184,765,825 , GRCh37.p13 chr1: 184,719,707-184,734,959 EDEM3, LOC105371649
    nsv4877969mobile element deletion1nstd200human GRCh38 chr1: 184,720,513-184,720,621 , GRCh37.p13 chr1: 184,689,647-184,689,755 EDEM3
    nsv4784938copy number variation1nstd200human GRCh37 chr1: 184,695,830-184,697,043 , GRCh38.p12 chr1: 184,726,696-184,727,909 EDEM3
    nsv4774083mobile element deletion1nstd200human GRCh37 chr1: 184,689,647-184,689,755 , GRCh38.p12 chr1: 184,720,513-184,720,621 EDEM3
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761707insertion1nstd199human GRCh37 chr1: 184,680,088-184,680,088 , GRCh38.p12 chr1: 184,710,954-184,710,954 EDEM3
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4708319copy number variation1nstd195human GRCh37 chr1: 184,719,662-184,719,663 , GRCh38.p12 chr1: 184,750,528-184,750,529 EDEM3
    nsv4674525copy number variation1nstd102humanUncertain significance GRCh37 chr1: 184,688,562-184,921,793 , GRCh38.p12 chr1: 184,719,428-184,952,661 LOC105371649, NIBAN1, 3 more genes
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4594119copy number variation1nstd183human GRCh37 chr1: 184,660,480-184,663,458 , GRCh38.p12 chr1: 184,691,346-184,694,324 EDEM3
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