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Items: 1 to 20 of 337

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7085843copy number variation1nstd229human GRCh38 chrX: 16,645,839-16,649,455 , GRCh37.p13 chrX: 16,663,962-16,667,578 CTPS2, S100G
    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
    nsv7085841copy number variation1nstd229human GRCh38 chrX: 16,585,600-16,729,551 , GRCh37.p13 chrX: 16,603,723-16,747,674 CTPS2, SYAP1, 2 more genes
    nsv7085833copy number variation1nstd229human GRCh38 chrX: 16,573,771-16,714,188 , GRCh37.p13 chrX: 16,591,894-16,732,311 MIR548AM, CTPS2, 1 more genes
    nsv7085800copy number variation1nstd229human GRCh38 chrX: 16,382,175-16,678,667 , GRCh37.p13 chrX: 16,400,298-16,696,790 LOC100132857, CTPS2, 3 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
    nsv7085780copy number variation1nstd229human GRCh38 chrX: 16,257,744-16,741,127 , GRCh37.p13 chrX: 16,275,867-16,759,250 RN7SL658P, SYAP1, 4 more genes
    nsv7085766copy number variation1nstd229human GRCh38 chrX: 16,167,749-16,822,782 , GRCh37.p13 chrX: 16,185,872-16,840,905 RPL6P30, RNU7-56P, 8 more genes
    nsv7085760copy number variation1nstd229human GRCh38 chrX: 16,149,739-16,747,852 , GRCh37.p13 chrX: 16,167,862-16,765,975 CTPS2, MAGEB17, 7 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
    nsv7028760inversion1nstd229human GRCh38 chrX: 16,149,740-16,746,591 , GRCh37.p13 chrX: 16,167,863-16,764,714 RPL6P30, S100G, 7 more genes
    nsv7021157inversion1nstd229human GRCh38 chrX: 14,244,684-19,508,867 , GRCh37.p13 chrX: 14,262,806-19,526,985 CA5BP1, CDKL5, 74 more genes
    nsv6636050copy number variation1nstd102humanUncertain significance GRCh37 chrX: 16,275,581-16,757,372 , GRCh38.p12 chrX: 16,257,458-16,739,249 CTPS2, RN7SL658P, 4 more genes
    nsv6636046copy number variation1nstd102humanUncertain significance GRCh37 chrX: 15,987,832-16,710,798 , GRCh38.p12 chrX: 15,969,709-16,692,675 RN7SL658P, RPL6P30, 6 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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