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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5718989mobile element insertion2nstd211human GRCh38 chr1: 12,526,624-12,526,624 , GRCh37.p13 chr1: 12,586,666-12,586,666 LINC02766
    nsv5557965mobile element insertion1nstd206human GRCh38 chr1: 12,526,624-12,526,675 , GRCh37.p13 chr1: 12,586,666-12,586,717 LINC02766
    nsv5432336copy number variation1nstd206human GRCh38 chr1: 12,531,198-12,532,043 , GRCh37.p13 chr1: 12,591,239-12,592,083 LINC02766
    nsv5430734copy number variation1nstd206human GRCh38 chr1: 12,524,806-12,524,926 , GRCh37.p13 chr1: 12,584,848-12,584,968 LINC02766
    nsv5212805copy number variation1nstd204human GRCh38.p13 chr1: 12,530,199-12,586,016 , GRCh37.p13 chr1: 12,590,241-12,646,032 LINC02766, DHRS3, 2 more genes
    nsv4783008copy number variation1nstd200human GRCh37 chr1: 12,591,221-12,592,076 , GRCh38.p12 chr1: 12,531,180-12,532,036 LINC02766
    nsv4454705copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,246,640-12,841,900 , GRCh38.p12 chr1: 10,186,582-12,781,757 LINC01647, MIR7846, 73 more genes
    nsv4436711copy number variation1nstd102humanPathogenic GRCh37 chr1: 11,794,553-12,786,444 , GRCh38.p12 chr1: 11,734,496-12,726,477 MIR4632, AADACL3, 31 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4346738copy number variation1nstd102humanPathogenic GRCh37 chr1: 11,690,766-12,835,739 , GRCh38.p12 chr1: 11,630,709-12,775,596 MIR6729, PLOD1, 38 more genes
    nsv4038393copy number variation1nstd166human GRCh37.p13 chr1: 12,591,239-12,592,084 , GRCh38.p12 chr1: 12,531,198-12,532,044 LINC02766
    nsv4033084copy number variation1nstd166human GRCh37.p13 chr1: 12,590,130-12,590,245 , GRCh38.p12 chr1: 12,530,088-12,530,203 LINC02766
    nsv3913790copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,370,726-15,979,918 , GRCh37.p13 chr1: 10,448,139-16,107,331 , GRCh38.p12 chr1: 10,388,082-15,780,836 PRAMEF15, LOC105376759, 149 more genes
    nsv3912305copy number variation1nstd102humanPathogenic NCBI36 chr1: 8,912,677-16,390,632 , GRCh37.p13 chr1: 8,990,090-16,518,045 , GRCh38.p12 chr1: 8,930,031-16,191,550 DDI2, RN7SL614P, 200 more genes
    nsv3908546copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,554,885-16,056,011 , GRCh37 chr1: 6,614,945-16,382,506 , NCBI36 chr1: 6,537,532-16,255,093 LOC105376717, LOC107984915, 244 more genes
    nsv3907278copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,714,127-12,828,807 , NCBI36 chr1: 11,636,714-12,751,394 , GRCh38 chr1: 11,654,070-12,768,656 FBXO44, LOC101060126, 37 more genes
    nsv3906265copy number variation1nstd102humanBenign GRCh37 chr1: 12,353,332-13,178,669 , GRCh38 chr1: 12,293,275-13,111,197 , NCBI36 chr1: 12,275,919-13,101,256 PRAMEF1, CFAP107, 26 more genes
    nsv3905483copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,303,641-15,799,093 , NCBI36 chr1: 6,286,288-15,998,175 , GRCh37 chr1: 6,363,701-16,125,588 VPS13D, PRAMEF30P, 240 more genes
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