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Items: 1 to 20 of 373

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7142256insertion1nstd232human GRCh37.p13 chrX: 16,887,343-16,887,343 , GRCh38.p12 chrX: 16,869,220-16,869,220 RBBP7
    nsv7137863insertion1nstd232human GRCh37.p13 chrX: 16,870,998-16,870,998 , GRCh38.p12 chrX: 16,852,875-16,852,875 RBBP7
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7085868copy number variation1nstd229human GRCh38 chrX: 16,863,346-17,156,020 , GRCh37.p13 chrX: 16,881,469-17,174,143 REPS2, HMGN2P45, 4 more genes
    nsv7085867copy number variation1nstd229human GRCh38 chrX: 16,856,301-16,994,700 , GRCh37.p13 chrX: 16,874,424-17,012,823 SLC35C2P1, REPS2, 2 more genes
    nsv7085866copy number variation1nstd229human GRCh38 chrX: 16,855,390-16,855,409 , GRCh37.p13 chrX: 16,873,513-16,873,532 RBBP7
    nsv7085865copy number variation1nstd229human GRCh38 chrX: 16,854,781-17,475,236 , GRCh37.p13 chrX: 16,872,904-17,493,359 NHS, MIR4768, 7 more genes
    nsv7085864copy number variation1nstd229human GRCh38 chrX: 16,844,064-16,844,090 , GRCh37.p13 chrX: 16,862,187-16,862,213 RBBP7, TXLNG
    nsv7085863copy number variation1nstd229human GRCh38 chrX: 16,837,814-16,844,665 , GRCh37.p13 chrX: 16,855,937-16,862,788 RBBP7, TXLNG
    nsv7085842copy number variation1nstd229human GRCh38 chrX: 16,613,027-17,061,446 , GRCh37.p13 chrX: 16,631,150-17,079,569 S100G, REPS2, 8 more genes
    nsv7085793copy number variation1nstd229human GRCh38 chrX: 16,335,259-16,957,779 , GRCh37.p13 chrX: 16,353,382-16,975,902 RBBP7, TXLNG, 10 more genes
    nsv7085539copy number variation1nstd229human GRCh38 chrX: 15,461,305-24,177,792 , GRCh37.p13 chrX: 15,479,428-24,195,909 LOC105373146, PIR-FIGF, 104 more genes
    nsv7037021inversion1nstd229human GRCh38 chrX: 14,941,162-18,599,007 , GRCh37.p13 chrX: 14,959,284-18,617,127 TXLNG, MIR4768, 54 more genes
    nsv7034782inversion1nstd229human GRCh38 chrX: 16,856,314-16,883,018 , GRCh37.p13 chrX: 16,874,437-16,901,141 RNU4-6P, RBBP7
    nsv7033577inversion1nstd229human GRCh38 chrX: 16,843,581-16,843,633 , GRCh37.p13 chrX: 16,861,704-16,861,756 RBBP7, TXLNG
    nsv7021157inversion1nstd229human GRCh38 chrX: 14,244,684-19,508,867 , GRCh37.p13 chrX: 14,262,806-19,526,985 CA5BP1, CDKL5, 74 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6634135copy number variation1nstd224human GRCh37 chrX: 2,700,157-26,836,730 , GRCh38.p12 chrX: 2,782,116-26,818,613 AMELX, ARSF, 258 more genes
    nsv6315577complex substitution1nstd102humanPathogenic GRCh37 chrX: 590,376-56,315,041 , GRCh38.p12 chrX: 629,641-56,288,608 ACTG1P10, NR0B1, 778 more genes
    nsv6315393copy number variation1nstd102humanPathogenic GRCh37 chrX: 61,545-155,226,048 , GRCh38.p12 chrX: 11,545-155,996,383 H2BP8, LOC101060199, 2151 more genes
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