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Items: 1 to 20 of 531

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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
    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
    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
    nsv7087798copy number variation1nstd229human GRCh38 chrX: 47,029,855-47,034,747 , GRCh37.p13 chrX|NW_004166866.1: 279,416-284,308 , GRCh37.p13 chrX: 46,889,257-46,894,149 JADE3
    nsv7087797copy number variation1nstd229human GRCh38 chrX: 46,999,893-47,008,823 , GRCh37.p13 chrX: 46,859,295-46,868,225 , GRCh37.p13 chrX|NW_004166866.1: 249,454-258,384 JADE3
    nsv7087796copy number variation1nstd229human GRCh38 chrX: 46,951,729-46,958,419 , GRCh37.p13 chrX|NW_004166866.1: 201,290-207,980 , GRCh37.p13 chrX: 46,823,690-46,830,380 JADE3
    nsv7087795copy number variation1nstd229human GRCh38 chrX: 46,946,364-46,961,570 , GRCh37.p13 chrX|NW_004166866.1: 195,925-211,131 , GRCh37.p13 chrX: 46,820,538-46,830,508 JADE3
    nsv7087794copy number variation1nstd229human GRCh38 chrX: 46,945,785-46,951,911 , GRCh37.p13 chrX: 46,805,220-46,810,693 , GRCh37.p13 chrX|NW_004166866.1: 195,346-201,472 JADE3
    nsv7087793copy number variation1nstd229human GRCh38 chrX: 46,942,208-46,943,772 , GRCh37.p13 chrX|NW_004166866.1: 191,769-193,333 , GRCh37.p13 chrX: 46,801,643-46,803,207 JADE3
    nsv7087792copy number variation1nstd229human GRCh38 chrX: 46,935,095-46,936,083 , GRCh37.p13 chrX|NW_004166866.1: 184,656-185,644 , GRCh37.p13 chrX: 46,794,530-46,795,518 JADE3
    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
    nsv7037529inversion1nstd229human GRCh38 chrX: 47,011,836-47,012,724 , GRCh37.p13 chrX|NW_004166866.1: 261,397-262,285 , GRCh37.p13 chrX: 46,871,238-46,872,126 JADE3
    nsv7035245inversion1nstd229human GRCh38 chrX: 47,011,832-47,012,567 , GRCh37.p13 chrX: 46,871,234-46,871,969 , GRCh37.p13 chrX|NW_004166866.1: 261,393-262,128 JADE3
    nsv7034979inversion1nstd229human GRCh38 chrX: 46,796,509-48,396,328 , GRCh37.p13 chrX: 46,655,944-48,255,770 SSX1, S100A11P6, 66 more genes
    nsv7024950inversion1nstd229human GRCh38 chrX: 47,053,664-47,053,780 , GRCh37.p13 chrX|NW_004166866.1: 303,225-303,341 , GRCh37.p13 chrX: 46,913,066-46,913,182 JADE3
    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
    nsv6636278copy number variation1nstd102humanUncertain significance GRCh37 chrX: 46,780,978-47,184,052 , GRCh38.p12 chrX: 46,921,543-47,324,653 LOC105373194, LOC107985720, 14 more genes
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