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Items: 1 to 20 of 133

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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
    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
    nsv4728270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,410,914-178,743,636 , GRCh38.p12 chr1: 174,441,776-178,774,501 LINC01741, MRPS14, 52 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
    nsv4679968copy number variation1nstd189human GRCh37.p13 chr1: 175,476,591-175,876,814 , GRCh38.p12 chr1: 175,507,455-175,907,678 TNR, LINC01657, 1 more genes
    nsv4674280copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,974,791-177,024,710 , GRCh38.p12 chr1: 175,005,655-177,055,574 ENTR1P2, PTP4A1P7, 20 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
    nsv4064875copy number variation1nstd166human GRCh37.p13 chr1: 175,846,374-175,850,226 , GRCh38.p12 chr1: 175,877,238-175,881,090 LINC02803, LINC01657
    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
    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
    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
    nsv3901593copy number variation1nstd102humanPathogenic NCBI36 chr1: 161,618,937-174,112,781 , GRCh37 chr1: 163,352,313-175,846,158 , GRCh38 chr1: 163,382,523-175,877,022 NME7, LOC105371618, 233 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
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 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
    nsv3896331copy number variation1nstd102humanPathogenic GRCh38 chr1: 164,922,655-180,061,589 , NCBI36 chr1: 163,158,516-178,297,347 , GRCh37 chr1: 164,891,892-180,030,724 GAS5-AS1, RNU7-78P, 290 more genes
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