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Items: 1 to 20 of 353

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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
    nsv7098320copy number variation1nstd102humanUncertain significance GRCh37 chrX: 48,932,462-49,089,771 , GRCh38.p12 chrX: 49,074,803-49,233,309 RNU4-52P, CACNA1F, 10 more genes
    nsv7098319copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 48,368,209-51,241,672 , GRCh38.p12 chrX: 48,509,821-51,498,820 GRIPAP1, ASMER2, 92 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
    nsv7088039copy number variation1nstd229human GRCh38 chrX: 49,183,085-49,195,144 , GRCh37.p13 chrX: 49,039,540-49,051,603 , GRCh37.p13 chrX|NW_004070880.2: 1,422,514-1,434,573 SYP, PRICKLE3
    nsv7088038copy number variation1nstd229human GRCh38 chrX: 49,177,401-49,190,500 , GRCh37.p13 chrX: 49,033,750-49,046,958 , GRCh37.p13 chrX|NW_004070880.2: 1,416,830-1,429,929 SYP, PRICKLE3
    nsv7088037copy number variation1nstd229human GRCh38 chrX: 49,173,518-49,174,426 , GRCh37.p13 chrX|NW_004070880.2: 1,412,947-1,413,855 , GRCh37.p13 chrX: 49,029,865-49,030,773 PRICKLE3, PLP2
    nsv7088036copy number variation1nstd229human GRCh38 chrX: 49,171,801-49,260,900 , GRCh37.p13 chrX|NW_004070880.2: 1,411,230-1,500,329 , GRCh37.p13 chrX: 49,028,149-49,117,357 PRICKLE3, CACNA1F, 6 more genes
    nsv7088025copy number variation1nstd229human GRCh38 chrX: 49,068,901-49,283,500 , GRCh37.p13 chrX: 48,926,437-49,139,961 , GRCh37.p13 chrX|NW_004070880.2: 1,308,330-1,522,929 FLICR, MAGIX, 16 more genes
    nsv7088022copy number variation1nstd229human GRCh38 chrX: 49,038,201-49,270,600 , GRCh37.p13 chrX|NW_004070880.2: 1,277,630-1,510,029 , GRCh37.p13 chrX: 48,895,726-49,127,063 PRICKLE3, SYP, 17 more genes
    nsv7088019copy number variation1nstd229human GRCh38 chrX: 48,984,801-49,307,700 , GRCh37.p13 chrX: 48,841,214-49,164,179 , GRCh37.p13 chrX|NW_004070880.2: 1,224,230-1,547,129 CCDC120, GRIPAP1, 19 more genes
    nsv7088012copy number variation1nstd229human GRCh38 chrX: 48,891,201-49,305,700 , GRCh37.p13 chrX|NW_004070880.2: 1,130,630-1,545,129 , GRCh37.p13 chrX: 48,748,484-49,162,179 GPKOW, GRIPAP1, 26 more genes
    nsv7088011copy number variation1nstd229human GRCh38 chrX: 48,891,201-49,249,700 , GRCh37.p13 chrX|NW_004070880.2: 1,130,630-1,489,129 , GRCh37.p13 chrX: 48,748,484-49,106,161 HSPB1P2, PRAF2, 23 more genes
    nsv7088003copy number variation1nstd229human GRCh38 chrX: 48,826,501-49,260,900 , GRCh37.p13 chrX|NW_004070880.2: 1,065,930-1,500,329 , GRCh37.p13 chrX: 48,684,911-49,117,357 RN7SL262P, PIM2, 25 more genes
    nsv7088000copy number variation1nstd229human GRCh38 chrX: 48,784,801-49,271,500 , GRCh37.p13 chrX: 48,643,209-49,127,962 , GRCh37.p13 chrX|NW_004070880.2: 1,024,230-1,510,929 GPKOW, CCDC120, 29 more genes
    nsv7028188inversion1nstd229human GRCh38 chrX: 48,271,055-52,545,048 , GRCh37.p13 chrX|NW_004070877.1: 1-2,258,163 SSXP8, CACNA1F, 141 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
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