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Items: 1 to 20 of 163

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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
    nsv5077140mobile element insertion1nstd203human GRCh38 chr1: 190,481,078-190,481,078 , GRCh37.p13 chr1: 190,450,208-190,450,208 BRINP3-DT
    nsv4904153copy number variation1nstd200human GRCh38 chr1: 190,477,994-190,568,270 , GRCh37.p13 chr1: 190,447,124-190,537,400 BRINP3, BRINP3-DT
    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
    nsv4728194copy number variation1nstd102humanUncertain significance GRCh37 chr1: 189,776,412-191,289,591 , GRCh38.p12 chr1: 189,807,282-191,320,461 HNRNPA1P46, LOC105371658, 7 more genes
    nsv4728145copy number variation1nstd102humanUncertain significance GRCh37 chr1: 190,098,893-192,114,806 , GRCh38.p12 chr1: 190,129,763-192,145,676 BRINP3, LINC01680, 7 more genes
    nsv4674181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 190,186,386-190,675,536 , GRCh38.p12 chr1: 190,217,256-190,706,406 BRINP3, BRINP3-DT, 3 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
    nsv4452742copy number variation1nstd102humannot provided GRCh37 chr1: 189,535,683-190,802,683 , GRCh38.p12 chr1: 189,566,553-190,833,553 LINC01720, LOC105371658, 7 more genes
    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
    nsv3904393copy number variation1nstd102humanPathogenic GRCh37 chr1: 170,898,861-191,034,539 , GRCh38 chr1: 170,929,720-191,065,409 , NCBI36 chr1: 169,165,485-189,301,162 RPL18P2, KIAA0040, 302 more genes
    nsv3900886copy number variation1nstd102humanLikely benign NCBI36 chr1: 187,828,838-189,012,431 , GRCh37 chr1: 189,562,215-190,745,808 , GRCh38 chr1: 189,593,085-190,776,678 BRINP3, LINC01720, 7 more genes
    nsv3898745copy number variation1nstd102humanLikely benign NCBI36 chr1: 187,696,725-189,181,203 , GRCh37 chr1: 189,430,102-190,914,580 , GRCh38 chr1: 189,460,972-190,945,450 BRINP3, LINC01720, 7 more genes
    nsv3898472copy number variation1nstd102humanUncertain significance GRCh38 chr1: 190,036,204-190,945,450 , GRCh37 chr1: 190,005,334-190,914,580 , NCBI36 chr1: 188,271,957-189,181,203 LOC105371659, BRINP3-DT, 3 more genes
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