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Items: 1 to 20 of 205

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5686359mobile element insertion1nstd211human GRCh38 chr1: 182,381,542-182,381,542 , GRCh37.p13 chr1: 182,350,677-182,350,677 GLUL
    nsv5448334copy number variation1nstd206human GRCh38 chr1: 182,375,133-182,376,353 , GRCh37.p13 chr1: 182,344,268-182,345,488 GLUL
    nsv5407415mobile element insertion1nstd206human GRCh38 chr1: 182,381,542-182,381,593 , GRCh37.p13 chr1: 182,350,677-182,350,728 GLUL
    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
    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
    nsv4674293copy number variation1nstd102humanUncertain significance GRCh37 chr1: 180,586,428-183,178,629 , GRCh38.p12 chr1: 180,617,292-183,209,494 RNU6-152P, TEDDM1, 45 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
    nsv4594113copy number variation1nstd183human GRCh37 chr1: 182,359,578-182,361,490 , GRCh38.p12 chr1: 182,390,443-182,392,355 GLUL
    nsv4459464mobile element insertion1nstd166human GRCh37.p13 chr1: 182,350,662-182,350,662 , GRCh38.p12 chr1: 182,381,527-182,381,527 GLUL
    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
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv3971917copy number variation1nstd102humanUncertain significance GRCh37 chr1: 181,863,430-183,148,056 , GRCh38.p12 chr1: 181,894,295-183,178,921 LOC100421471, LINC01688, 28 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
    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
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