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Items: 1 to 20 of 169

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5877646copy number variation1nstd209human GRCh38 chr1: 155,918,602-155,918,730 , GRCh37.p13 chr1: 155,888,393-155,888,521 KHDC4, SNORA80E
    nsv5828160copy number variation1nstd209human GRCh38 chr1: 155,914,218-155,915,301 , GRCh37.p13 chr1: 155,884,009-155,885,092 KHDC4
    nsv5422143copy number variation1nstd206human GRCh38 chr1: 155,918,604-155,918,731 , GRCh37.p13 chr1: 155,888,395-155,888,522 SNORA80E, KHDC4
    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
    nsv5347281translocation1nstd200human GRCh38 chr1: 155,918,731-155,918,731 , GRCh38 chr1: 155,918,604-155,918,604 , GRCh37.p13 chr1: 155,888,395-155,888,395 , GRCh37.p13 chr1: 155,888,522-155,888,522 SNORA80E, KHDC4
    nsv5210151copy number variation1nstd204human GRCh38.p13 chr1: 155,756,701-156,073,800 , GRCh37.p13 chr1: 155,726,492-156,043,591 , RAB25, 19 more genes
    nsv5069127mobile element insertion1nstd203human GRCh38 chr1: 155,927,797-155,927,852 , GRCh37.p13 chr1: 155,897,588-155,897,643 KHDC4
    nsv5065306mobile element insertion1nstd203human GRCh38 chr1: 155,934,888-155,934,888 , GRCh37.p13 chr1: 155,904,679-155,904,679 KHDC4, LOC107985207
    nsv4784327copy number variation1nstd200human GRCh37 chr1: 155,890,728-155,895,840 , GRCh38.p12 chr1: 155,920,937-155,926,049 KHDC4, SCARNA4
    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
    nsv4579741copy number variation1nstd183human GRCh37 chr1: 155,899,632-155,916,710 , GRCh38.p12 chr1: 155,929,841-155,946,919 ARHGEF2, KHDC4, 2 more genes
    nsv4454397copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,870,169-156,108,907 , GRCh38 chr1: 155,900,378-156,139,116 UBQLN4, SCARNA4, 15 more genes
    nsv4452342copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,770,505-156,652,136 , GRCh38.p12 chr1: 155,800,714-156,682,344 NES, SNORA80E, 43 more genes
    nsv4070222copy number variation1nstd166human GRCh37.p13 chr1: 155,881,872-155,882,404 , GRCh38.p12 chr1: 155,912,081-155,912,613 KHDC4
    nsv4054989copy number variation1nstd166human GRCh37.p13 chr1: 155,887,704-155,888,204 , GRCh38.p12 chr1: 155,917,913-155,918,413 SNORA80E, KHDC4
    nsv4054401copy number variation1nstd166human GRCh37.p13 chr1: 155,888,395-155,888,522 , GRCh38.p12 chr1: 155,918,604-155,918,731 SNORA80E, KHDC4
    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
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 SMU1P1, LOC100419798, 152 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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