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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5887494copy number variation1nstd209human GRCh38 chr1: 192,263,809-193,558,335 , GRCh37.p13 chr1: 192,232,939-193,527,465 , LINC01031, 22 more genes
    nsv5877280copy number variation1nstd209human GRCh38 chr1: 192,579,422-192,657,019 , GRCh37.p13 chr1: 192,548,552-192,626,149 RGS1, LOC105371664, 2 more genes
    nsv5828799copy number variation2nstd209human GRCh38 chr1: 192,573,305-192,574,804 , GRCh37.p13 chr1: 192,542,435-192,543,934 LOC105371664, RGS1
    nsv5828798copy number variation1nstd209human GRCh38 chr1: 192,519,315-192,609,010 , GRCh37.p13 chr1: 192,488,445-192,578,140 RGS1, LOC105371664, 1 more genes
    nsv5828486copy number variation2nstd209human GRCh38 chr1: 192,573,980-192,656,775 , GRCh37.p13 chr1: 192,543,110-192,625,905 LOC105371664, LOC107985241, 2 more genes
    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
    nsv5076131mobile element insertion1nstd203human GRCh38 chr1: 192,573,768-192,573,784 , GRCh37.p13 chr1: 192,542,898-192,542,914 RGS1, LOC105371664
    nsv5073186mobile element insertion1nstd203human GRCh38 chr1: 192,577,400-192,577,415 , GRCh37.p13 chr1: 192,546,530-192,546,545 LOC105371664, RGS1
    nsv4904169copy number variation1nstd200human GRCh38 chr1: 192,384,028-192,630,290 , GRCh37.p13 chr1: 192,353,158-192,599,420 RGS1, LOC105371664, 1 more genes
    nsv4904119copy number variation1nstd200human GRCh38 chr1: 187,280,074-192,928,506 , GRCh37.p13 chr1: 187,249,206-192,897,636 MIR4426, LINC01701, 40 more genes
    nsv4781323copy number variation1nstd200human GRCh37 chr1: 187,249,206-192,897,636 , GRCh38.p12 chr1: 187,280,074-192,928,506 LOC105371657, RPS27AP5, 40 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
    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
    nsv4460158mobile element insertion1nstd166human GRCh37.p13 chr1: 192,543,025-192,543,025 , GRCh38.p12 chr1: 192,573,895-192,573,895 RGS1, LOC105371664
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 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
    nsv3905741copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,002,040-199,694,025 , NCBI36 chr1: 177,268,663-197,960,648 , GRCh38 chr1: 179,032,905-199,724,897 SLC4A1APP2, EEF1A1P44, 240 more genes
    nsv3899041copy number variation1nstd102humanPathogenic GRCh37 chr1: 192,537,006-193,149,179 , NCBI36 chr1: 190,803,629-191,415,802 , GRCh38 chr1: 192,567,876-193,180,049 CDC73, RGS13, 19 more genes
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