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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099198copy number variation1nstd231human GRCh38.p12 chr1: 44,129,375-46,768,878 , GRCh37 chr1: 44,595,047-47,234,550 PLK3, FAAH, 93 more genes
    nsv7095620copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,800,053-45,809,328 , GRCh38.p12 chr1: 45,334,381-45,343,656 TOE1, MUTYH, 1 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv6650500copy number variation1nstd229human GRCh38 chr1: 45,344,029-45,346,784 , GRCh37.p13 chr1: 45,809,701-45,812,456 TOE1, TESK2
    nsv6650499copy number variation1nstd229human GRCh38 chr1: 45,333,492-45,340,110 , GRCh37.p13 chr1: 45,799,164-45,805,782 MUTYH, TOE1
    nsv6649978copy number variation1nstd229human GRCh38 chr1: 45,284,916-45,996,554 , GRCh37.p13 chr1: 45,750,588-46,462,226 HPDL, PPIAP36, 22 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv5074772mobile element insertion1nstd203human GRCh38 chr1: 45,338,760-45,338,773 , GRCh37.p13 chr1: 45,804,432-45,804,445 MUTYH, TOE1
    nsv5071523mobile element insertion1nstd203human GRCh38 chr1: 45,338,416-45,338,432 , GRCh37.p13 chr1: 45,804,088-45,804,104 MUTYH, TOE1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4682365copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr1: 45,805,881-45,809,328 , GRCh38.p12 chr1: 45,340,209-45,343,656 TOE1, MUTYH, 1 more genes
    nsv4682227copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,077-45,805,936 , GRCh38.p12 chr1: 44,822,405-45,340,264 MUTYH, HECTD3, 14 more genes
    nsv4682150copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,794,978-45,809,328 , GRCh38.p12 chr1: 45,329,306-45,343,656 TESK2, MUTYH, 1 more genes
    nsv4674088copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,386,263-45,982,314 , GRCh38.p12 chr1: 44,920,591-45,516,642 TOE1, EIF2B3, 17 more genes
    nsv4594530copy number variation1nstd183human GRCh37 chr1: 45,675,811-45,915,444 , GRCh38.p12 chr1: 45,210,139-45,449,772 MUTYH, TESK2, 5 more genes
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