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Items: 1 to 20 of 164

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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
    nsv5216616copy number variation1nstd204human GRCh38.p13 chr1: 185,335,201-185,380,100 , GRCh37.p13 chr1: 185,304,333-185,349,232 GS1-279B7.1
    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
    nsv4579935copy number variation1nstd183human GRCh37 chr1: 185,107,854-185,999,128 , GRCh38.p12 chr1: 185,138,722-186,029,996 , RPL5P5, 13 more genes
    nsv4564796sequence alteration1nstd166human GRCh37.p13 chr1: 185,288,359-185,323,763 , GRCh38.p12 chr1: 185,319,227-185,354,631 GS1-279B7.1
    nsv4516858copy number variation1nstd166human GRCh37.p13 chr1: 185,288,360-185,321,777 , GRCh38.p12 chr1: 185,319,228-185,352,645 GS1-279B7.1
    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
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 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
    nsv3909289copy number variation1nstd102humanPathogenic NCBI36 chr1: 180,373,484-185,166,880 , GRCh37 chr1: 182,106,861-186,900,257 , GRCh38 chr1: 182,137,726-186,931,125 LOC100271717, TSEN15, 79 more genes
    nsv3907850copy number variation1nstd102humanPathogenic GRCh38 chr1: 175,035,040-186,042,595 , NCBI36 chr1: 173,270,799-184,278,350 , GRCh37 chr1: 175,004,176-186,011,727 LOC100129573, KIAA0040, 172 more genes
    nsv3906830copy number variation1nstd102humanUncertain significance GRCh37 chr1: 184,071,723-185,563,109 , NCBI36 chr1: 182,338,346-183,829,732 , GRCh38 chr1: 184,102,589-185,593,977 C1orf21, RN7SL654P, 25 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
    nsv3901149copy number variation1nstd102humanPathogenic NCBI36 chr1: 168,271,833-185,790,903 , GRCh37 chr1: 170,005,209-187,524,280 , GRCh38 chr1: 170,036,068-187,555,148 RGSL1, RNU6-157P, 296 more genes
    nsv3900908copy number variation1nstd102humanUncertain significance GRCh37 chr1: 184,241,084-186,207,726 , NCBI36 chr1: 182,507,707-184,474,349 , GRCh38 chr1: 184,271,950-186,238,594 LOC100422414, LOC105371654, 27 more genes
    nsv3898042copy number variation1nstd102humanPathogenic GRCh37 chr1: 171,009,116-186,845,089 , NCBI36 chr1: 169,275,740-185,111,712 , GRCh38 chr1: 171,039,975-186,875,957 XPR1, TEDDM1, 279 more genes
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