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Items: 1 to 20 of 408

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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
    nsv7098593copy number variation1nstd102humanPathogenic GRCh37 chrX: 14,875,974-14,891,184 , GRCh38.p12 chrX: 14,857,852-14,873,062 FANCB, MOSPD2
    nsv7098592copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 14,861,689-15,870,650 , GRCh38.p12 chrX: 14,843,567-15,852,527 VEGFD, CA5BP1-CA5B, 20 more genes
    nsv7098231copy number variation1nstd102humanPathogenic GRCh37 chrX: 14,861,689-14,891,184 , GRCh38.p12 chrX: 14,843,567-14,873,062 MOSPD2, FANCB
    nsv7085317copy number variation1nstd229human GRCh38 chrX: 14,907,701-14,915,200 , GRCh37.p13 chrX: 14,925,823-14,933,322 MOSPD2
    nsv7085067copy number variation1nstd229human GRCh38 chrX: 14,699,527-15,147,745 , GRCh37.p13 chrX: 14,717,649-15,165,867 MOSPD2, GLRA2, 4 more genes
    nsv7085015copy number variation1nstd229human GRCh38 chrX: 14,650,010-15,265,016 , GRCh37.p13 chrX: 14,668,132-15,283,138 MOSPD2, ASB9, 5 more genes
    nsv7084518copy number variation1nstd229human GRCh38 chrX: 14,312,256-14,902,887 , GRCh37.p13 chrX: 14,330,378-14,921,009 FANCB, LOC107985686, 3 more genes
    nsv7023785inversion1nstd229human GRCh38 chrX: 13,472,327-15,761,537 , GRCh37.p13 chrX: 13,490,446-15,779,660 MIR6086, ACE2, 33 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
    nsv6636009copy number variation1nstd102humanUncertain significance GRCh37 chrX: 14,644,702-15,779,774 , GRCh38.p12 chrX: 14,626,580-15,761,651 ACE2-DT, PIGA, 19 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
    nsv6315389copy number variation1nstd102humanPathogenic GRCh37 chrX: 11,522,765-155,233,731 , GRCh38.p12 chrX: 11,504,645-156,004,066 RBMX, LOC100129144, 2042 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
    nsv6315330copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-57,841,304 , GRCh38.p12 chrX: 251,879-57,814,871 NPM1P9, UBE2E4P, 799 more genes
    nsv6314786copy number variation1nstd220human GRCh37 chrX: 2,795,214-17,648,380 , GRCh38.p12 chrX: 2,877,173-17,630,260 AMELX, SHROOM2, 156 more genes
    nsv6314783copy number variation1nstd220human GRCh37 chrX: 2,795,214-16,240,667 , GRCh38.p12 chrX: 2,877,173-16,222,544 AMELX, SHROOM2, 137 more genes
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