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Items: 1 to 20 of 213

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5610396insertion1nstd207human GRCh38 chr1: 116,986,977-116,986,977 , GRCh37.p13 chr1: 117,529,599-117,529,599 PTGFRN, CD101
    nsv5423904copy number variation1nstd206human GRCh38 chr1: 116,915,050-116,915,706 , GRCh37.p13 chr1: 117,457,672-117,458,328 PTGFRN
    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
    nsv5168731mobile element insertion1nstd203human GRCh38 chr1: 116,929,160-116,929,175 , GRCh37.p13 chr1: 117,471,782-117,471,797 PTGFRN
    nsv5068908mobile element insertion1nstd203human GRCh38 chr1: 116,961,153-116,961,165 , GRCh37.p13 chr1: 117,503,775-117,503,787 PTGFRN, RNA5SP55
    nsv4890946copy number variation1nstd200human GRCh38 chr1: 116,974,588-116,977,308 , GRCh37.p13 chr1: 117,517,210-117,519,930 PTGFRN
    nsv4890945copy number variation1nstd200human GRCh38 chr1: 116,961,955-116,965,640 , GRCh37.p13 chr1: 117,504,577-117,508,262 PTGFRN, RNA5SP55
    nsv4773816copy number variation1nstd200human GRCh37 chr1: 117,517,210-117,519,930 , GRCh38.p12 chr1: 116,974,588-116,977,308 PTGFRN
    nsv4773815copy number variation1nstd200human GRCh37 chr1: 117,504,577-117,508,262 , GRCh38.p12 chr1: 116,961,955-116,965,640 PTGFRN, RNA5SP55
    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
    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
    nsv4066711copy number variation1nstd166human GRCh37.p13 chr1: 117,504,577-117,508,262 , GRCh38.p12 chr1: 116,961,955-116,965,640 PTGFRN, RNA5SP55
    nsv4053848copy number variation1nstd166human GRCh37.p13 chr1: 117,134,952-117,454,806 , GRCh38.p12 chr1: 116,592,330-116,912,184 LOC105378924, PTGFRN, 9 more genes
    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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