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Items: 1 to 20 of 305

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137157inversion1nstd234human GRCh37 chrX: 31,626,542-82,320,140 , GRCh38.p12 chrX: 31,608,425-83,065,132 ABCB7, ACTG1P10, 775 more genes
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098786copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,466,387-51,241,672 , GRCh38.p12 chrX: 46,606,952-51,498,820 LOC100419232, LOC791091, 172 more genes
    nsv7098417copy number variation2nstd102humanPathogenic GRCh37 chrX: 46,618,120-48,549,553 , GRCh38.p12 chrX: 46,758,685-48,691,162 ZNF81, LOC105373194, 84 more genes
    nsv7098318copy number variation3nstd102humanUncertain significance GRCh37 chrX: 47,001,716-50,659,607 , GRCh38.p12 chrX: 47,142,317-50,916,607 PYY3, CCDC120, 148 more genes
    nsv7098317copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,466,387-50,659,607 , GRCh38.p12 chrX: 46,606,952-50,916,607 PLP2, RN7SL262P, 160 more genes
    nsv7087864copy number variation1nstd229human GRCh38 chrX: 47,721,810-48,192,356 , GRCh37.p13 chrX|NW_004070880.2: 1-431,785 , GRCh37.p13 chrX: 47,619,971-48,051,792 RNU6-707P, SSX13P, 15 more genes
    nsv7087863copy number variation1nstd229human GRCh38 chrX: 47,721,801-47,853,100 , GRCh37.p13 chrX|NW_004070880.2: 1-92,529 , GRCh37.p13 chrX: 47,619,971-47,712,499 ZNF81, CXXC1P1, 4 more genes
    nsv7034979inversion1nstd229human GRCh38 chrX: 46,796,509-48,396,328 , GRCh37.p13 chrX: 46,655,944-48,255,770 SSX1, S100A11P6, 66 more genes
    nsv7020038inversion1nstd229human GRCh38 chrX: 47,667,811-48,075,814 , GRCh37.p13 chrX: 47,619,971-47,935,183 , GRCh37.p13 chrX|NW_004070880.2: 1-315,243 LOC100419908, RPL7P57, 9 more genes
    nsv6637069copy number variation1nstd102humanPathogenic GRCh37 chrX: 39,525,562-52,832,596 , GRCh38.p12 chrX: 39,666,308-52,803,572 LOC100419238, NDP, 312 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 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
    nsv6137607copy number variation1nstd213human GRCh37 chrX: 4,160,000-52,130,001 , GRCh38.p12 chrX: 4,241,959-52,386,858 NR0B1, AMELX, 630 more genes
    nsv6137606copy number variation1nstd213human GRCh37 chrX: 2,750,000-52,110,001 , GRCh38.p12 chrX: 2,831,959-52,366,858 NR0B1, AMELX, 653 more genes
    nsv6137605copy number variation1nstd213human GRCh37 chrX: 2,680,000-52,110,001 , GRCh38.p12 chrX: 2,761,959-52,366,858 NR0B1, AMELX, 654 more genes
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