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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5686323mobile element insertion2nstd211human GRCh38 chr1: 117,312,054-117,312,054 , GRCh37.p13 chr1: 117,854,676-117,854,676 LINC01525
    nsv5683031mobile element insertion1nstd211human GRCh38 chr1: 117,309,625-117,309,625 , GRCh37.p13 chr1: 117,852,247-117,852,247 LINC01525
    nsv5396397mobile element insertion1nstd206human GRCh38 chr1: 117,312,043-117,312,043 , GRCh37.p13 chr1: 117,854,665-117,854,665 LINC01525
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5074706mobile element insertion1nstd203human GRCh38 chr1: 117,312,043-117,312,054 , GRCh37.p13 chr1: 117,854,665-117,854,676 LINC01525
    nsv5064041mobile element insertion1nstd203human GRCh38 chr1: 117,312,048-117,312,054 , GRCh37.p13 chr1: 117,854,670-117,854,676 LINC01525
    nsv4894455copy number variation1nstd200human GRCh38 chr1: 117,100,223-117,440,243 , GRCh37.p13 chr1: 117,642,845-117,982,865 TTF2, VTCN1, 4 more genes
    nsv4894453copy number variation1nstd200human GRCh38 chr1: 117,048,575-117,440,289 , GRCh37.p13 chr1: 117,591,197-117,982,911 TTF2, MAN1A2, 6 more genes
    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
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4563489mobile element insertion1nstd166human GRCh37.p13 chr1: 117,838,383-117,838,383 , GRCh38.p12 chr1: 117,295,761-117,295,761 LINC01525
    nsv4534652insertion1nstd166human GRCh37.p13 chr1: 117,854,665-117,854,665 , GRCh38.p12 chr1: 117,312,043-117,312,043 LINC01525
    nsv4369244copy number variation1nstd173human GRCh37 chr1: 116,925,151-118,184,675 , GRCh38.p12 chr1: 116,382,529-117,642,053 TRIM45, FTH1P22, 32 more genes
    nsv4055462copy number variation1nstd166human GRCh37.p13 chr1: 117,861,092-117,861,397 , GRCh38.p12 chr1: 117,318,470-117,318,775 LINC01525
    nsv3902511copy number variation1nstd102humanPathogenic NCBI36 chr1: 116,403,765-120,474,160 , GRCh38 chr1: 116,059,621-120,130,051 , GRCh37 chr1: 116,602,242-120,672,637 LINC01779, REG4, 89 more genes
    nsv3901616copy number variation1nstd102humanUncertain significance GRCh37 chr1: 117,294,629-117,852,464 , NCBI36 chr1: 117,096,152-117,653,987 , GRCh38 chr1: 116,752,007-117,309,842 CD2, LOC105378927, 11 more genes
    nsv3898188copy number variation1nstd102humanPathogenic NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827 AP4B1-AS1, HNRNPA1P43, 198 more genes
    nsv3893971copy number variation1nstd102humanPathogenic GRCh37 chr1: 117,221,744-119,832,652 , GRCh38 chr1: 116,679,122-119,290,029 , NCBI36 chr1: 117,023,267-119,634,175 RNA5SP55, LOC105378933, 40 more genes
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