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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
    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
    nsv4904067copy number variation1nstd200human GRCh38 chr1: 179,265,314-179,551,829 , GRCh37.p13 chr1: 179,234,449-179,520,964 AXDND1, RPL39P11, 5 more genes
    nsv4898268copy number variation1nstd200human GRCh38 chr1: 179,563,400-179,566,496 , GRCh37.p13 chr1: 179,532,535-179,535,631 NPHS2
    nsv4898267copy number variation1nstd200human GRCh38 chr1: 179,543,483-179,550,401 , GRCh37.p13 chr1: 179,512,618-179,519,536 AXDND1, NPHS2
    nsv4784833copy number variation1nstd200human GRCh37 chr1: 179,512,618-179,519,536 , GRCh38.p12 chr1: 179,543,483-179,550,401 NPHS2, AXDND1
    nsv4781294copy number variation1nstd200human GRCh37 chr1: 179,234,449-179,520,964 , GRCh38.p12 chr1: 179,265,314-179,551,829 LOC100420262, SOAT1, 5 more genes
    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
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4681778copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,533,815-179,533,938 , GRCh38.p12 chr1: 179,564,680-179,564,803 NPHS2
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4436225copy number variation1nstd102humanPathogenic GRCh37 chr1: 172,652,343-183,538,289 , GRCh38.p12 chr1: 172,683,203-183,569,154 KIAA1614-AS1, LOC105371630, 190 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4059969copy number variation1nstd166human GRCh37.p13 chr1: 179,512,618-179,519,536 , GRCh38.p12 chr1: 179,543,483-179,550,401 NPHS2, AXDND1
    nsv4057906copy number variation1nstd166human GRCh37.p13 chr1: 179,441,769-179,759,218 , GRCh38.p12 chr1: 179,472,634-179,790,083 NPHS2, AXDND1, 5 more genes
    nsv3967478insertion1nstd168human GRCh38 chr1: 179,573,435-179,614,505 , GRCh37.p13 chr1: 179,542,570-179,583,640 NPHS2, LOC126860, 2 more genes
    nsv3959207copy number variation1nstd168human GRCh38 chr1: 179,561,087-179,626,876 , GRCh37.p13 chr1: 179,530,222-179,596,011 LOC126860, NPHS2, 2 more genes
    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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