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Items: 1 to 20 of 181

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5879399copy number variation1nstd209human GRCh38 chr1: 151,559,896-151,560,032 , GRCh37.p13 chr1: 151,532,372-151,532,508 TUFT1
    nsv5429380copy number variation1nstd206human GRCh38 chr1: 151,558,424-151,560,301 , GRCh37.p13 chr1: 151,530,900-151,532,777 RPS10P6, TUFT1
    nsv5421882copy number variation1nstd206human GRCh38 chr1: 151,559,905-151,560,033 , GRCh37.p13 chr1: 151,532,381-151,532,509 TUFT1
    nsv5415884copy number variation1nstd206human GRCh38 chr1: 151,554,445-151,556,447 , GRCh37.p13 chr1: 151,526,921-151,528,923 TUFT1, RPS10P6
    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
    nsv5381206copy number variation1nstd102humanUncertain significance GRCh37 chr1: 151,122,490-151,585,008 , GRCh38.p12 chr1: 151,150,014-151,612,532 CGN, ZNF687-AS1, 21 more genes
    nsv5347217translocation1nstd200human GRCh38 chr1: 151,569,926-151,569,926 , GRCh38 chr5: 139,056,419-139,056,419 , GRCh37.p13 chr5: 138,392,108-138,392,108 , GRCh37.p13 chr1: 151,542,402-151,542,402 SIL1, TUFT1
    nsv5211396mobile element deletion1nstd204human GRCh37.p13 chr1: 151,517,497-151,517,808 , GRCh38.p13 chr1: 151,545,021-151,545,332 MIR554, TUFT1
    nsv5182987mobile element insertion1nstd203human GRCh38 chr1: 151,565,826-151,565,839 , GRCh37.p13 chr1: 151,538,302-151,538,315 TUFT1
    nsv4774013mobile element deletion1nstd200human GRCh37 chr1: 151,517,506-151,517,800 , GRCh38.p12 chr1: 151,545,030-151,545,324 TUFT1, MIR554
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4712598copy number variation1nstd195human GRCh37 chr1: 151,042,151-151,571,701 , GRCh38.p12 chr1: 151,069,675-151,599,225 PI4KB, PSMD4, 24 more genes
    nsv4593948copy number variation1nstd183human GRCh37 chr1: 151,501,737-151,588,815 , GRCh38.p12 chr1: 151,529,261-151,616,339 RPS10P6, TUFT1, 3 more genes
    nsv4579202copy number variation1nstd183human GRCh37 chr1: 151,549,055-151,556,911 , GRCh38.p12 chr1: 151,576,579-151,584,435 TUFT1
    nsv4389266copy number variation1nstd171human GRCh37 chr1: 151,512,431-151,512,466 , GRCh38.p12 chr1: 151,539,955-151,539,990 TUFT1
    nsv4060745copy number variation1nstd166human GRCh37.p13 chr1: 151,532,559-151,544,259 , GRCh38.p12 chr1: 151,560,083-151,571,783 TUFT1
    nsv4056139copy number variation1nstd166human GRCh37.p13 chr1: 151,532,381-151,532,509 , GRCh38.p12 chr1: 151,559,905-151,560,033 TUFT1
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
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