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Items: 1 to 20 of 377

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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
    nsv7098665copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,719,403-46,719,557 , GRCh38.p12 chrX: 46,859,968-46,860,122 RP2
    nsv7098664copy number variation1nstd102humanUncertain significance GRCh37 chrX: 46,466,387-46,739,204 , GRCh38.p12 chrX: 46,606,952-46,879,769 RP2, CHMP5P1, 3 more genes
    nsv7098663copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 46,466,387-46,719,557 , GRCh38.p12 chrX: 46,606,952-46,860,122 RP2, SLC9A7, 3 more genes
    nsv7098534copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 46,713,474-46,714,179 , GRCh38.p12 chrX: 46,854,039-46,854,744 RP2
    nsv7098533copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,466,387-47,489,243 , GRCh38.p12 chrX: 46,606,952-47,629,844 MIR4769, RP2, 32 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
    nsv7098416copy number variation1nstd102humanPathogenic GRCh37 chrX: 46,480,392-46,739,204 , GRCh38.p12 chrX: 46,620,957-46,879,769 YBX1P8, RP2, 3 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
    nsv7093560insertion1nstd102humanPathogenic GRCh37 chrX: 46,719,482-46,719,482 , GRCh38 chrX: 46,860,047-46,860,047 RP2
    nsv7087788copy number variation1nstd229human GRCh38 chrX: 46,851,037-46,882,760 , GRCh37.p13 chrX: 46,710,472-46,742,195 , GRCh37.p13 chrX|NW_004166866.1: 100,598-132,321 RP2
    nsv7087787copy number variation1nstd229human GRCh38 chrX: 46,846,807-46,849,275 , GRCh37.p13 chrX|NW_004166866.1: 96,368-98,836 , GRCh37.p13 chrX: 46,706,242-46,708,710 RP2
    nsv7087786copy number variation1nstd229human GRCh38 chrX: 46,829,924-46,839,323 , GRCh37.p13 chrX|NW_004166866.1: 79,485-88,884 , GRCh37.p13 chrX: 46,689,359-46,698,758 RP2
    nsv7087729copy number variation1nstd229human GRCh38 chrX: 46,142,983-47,749,549 , GRCh37.p13 chrX: 46,002,418-47,608,948 ELK1, LOC100419908, 49 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
    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
    nsv6634147copy number variation1nstd224human GRCh37 chrX: 46,532,035-46,742,729 , GRCh38.p12 chrX: 46,672,600-46,883,294 SLC9A7, CHMP5P1, 2 more genes
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