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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5675412mobile element insertion2nstd211human GRCh38 chr1: 247,449,685-247,449,685 , GRCh37.p13 chr1: 247,612,987-247,612,987 OR2B11
    nsv5408108mobile element insertion1nstd206human GRCh38 chr1: 247,449,685-247,449,728 , GRCh37.p13 chr1: 247,612,987-247,613,030 OR2B11
    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
    nsv5381215copy number variation1nstd102humanUncertain significance GRCh37 chr1: 247,607,254-247,617,036 , GRCh38.p12 chr1: 247,443,952-247,453,734 NLRP3, OR2B11
    nsv5077117mobile element insertion1nstd203human GRCh38 chr1: 247,449,669-247,449,685 , GRCh37.p13 chr1: 247,612,971-247,612,987 OR2B11
    nsv4870022inversion1nstd200human GRCh37 chr1: 247,517,183-247,641,595 , GRCh38.p12 chr1: 247,353,881-247,478,293 NLRP3, OR2B11, 2 more genes
    nsv4728429copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 246,853,199-249,181,899 , GRCh38.p12 chr1: 246,689,897-248,887,700 ZNF124, TRIM58, 105 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4682184copy number variation1nstd102humanUncertain significance GRCh37 chr1: 247,582,077-247,617,036 , GRCh38.p12 chr1: 247,418,775-247,453,734 OR2B11, NLRP3
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4594420copy number variation1nstd183human GRCh37 chr1: 247,566,211-247,666,523 , GRCh38.p12 chr1: 247,402,909-247,503,221 NLRP3, OR2W5P, 1 more genes
    nsv4562404sequence alteration1nstd166human GRCh37.p13 chr1: 247,215,189-248,008,496 , GRCh38.p12 chr1: 247,051,887-247,845,194 , ZNF124, 39 more genes
    nsv4519110copy number variation1nstd166human GRCh37.p13 chr1: 247,281,999-247,879,000 , GRCh38.p12 chr1: 247,118,697-247,715,698 , VN1R16P, 26 more genes
    nsv4460792mobile element insertion1nstd166human GRCh37.p13 chr1: 247,615,618-247,615,618 , GRCh38.p12 chr1: 247,452,316-247,452,316 OR2B11
    nsv4460791mobile element insertion1nstd166human GRCh37.p13 chr1: 247,612,971-247,612,971 , GRCh38.p12 chr1: 247,449,669-247,449,669 OR2B11
    nsv4455005copy number variation1nstd102humanPathogenic GRCh37 chr1: 238,669,293-249,224,684 , GRCh38.p12 chr1: 238,505,993-248,930,485 ZNF731P, RNU6-947P, 212 more genes
    nsv4454944copy number variation1nstd102humanUncertain significance GRCh37 chr1: 247,561,707-247,916,265 , GRCh38.p12 chr1: 247,398,405-247,752,963 OR14A2, OR3D1P, 13 more genes
    nsv4453906copy number variation1nstd102humanPathogenic GRCh37 chr1: 235,582,580-249,224,684 , GRCh38.p12 chr1: 235,419,265-248,930,485 YWHAQP9, LOC107985747, 268 more genes
    nsv4453644copy number variation1nstd102humanUncertain significance GRCh37 chr1: 247,032,527-248,071,583 , GRCh38.p12 chr1: 246,869,225-247,908,281 LOC107985375, OR6F1, 44 more genes
    nsv4453436copy number variation1nstd102humanPathogenic GRCh37 chr1: 246,565,044-249,224,684 , GRCh38.p12 chr1: 246,401,742-248,930,485 LOC105373273, OR6F1, 113 more genes
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