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Items: 1 to 20 of 289

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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
    nsv7084146copy number variation1nstd229human GRCh38 chrX: 134,951,260-134,951,438 , GRCh37.p13 chrX: 134,085,290-134,085,468 LINC02243
    nsv7084141copy number variation1nstd229human GRCh38 chrX: 134,922,201-134,976,900 , GRCh37.p13 chrX: 134,056,231-134,110,930 LINC02243, HMGB3P31
    nsv7044060inversion1nstd229human GRCh38 chrX: 134,736,748-136,484,102 , GRCh37.p13 chrX|NW_004070887.1: 1-1,045,622 , GRCh37.p13 chrX: 133,870,778-135,566,261 ETDA, SAGE3P, 57 more genes
    nsv7039688inversion1nstd229human GRCh38 chrX: 134,719,241-135,187,875 , GRCh37.p13 chrX: 133,853,271-134,202,886 LOC100419791, MOSPD1, 17 more genes
    nsv7039420inversion1nstd229human GRCh38 chrX: 134,755,627-135,206,647 , GRCh37.p13 chrX: 133,889,657-134,202,886 RTL8B, RTL8C, 18 more genes
    nsv6636407copy number variation1nstd102humanPathogenic GRCh37 chrX: 124,749,464-155,233,731 , GRCh38.p12 chrX: 125,615,468-156,004,066 RN7SKP31, LOC728470, 539 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 more genes
    nsv6633775copy number variation1nstd224human GRCh37 chrX: 133,906,202-135,831,362 , GRCh38.p12 chrX: 134,772,172-136,749,203 GAPDHP67, VGLL1, 63 more genes
    nsv6315429copy number variation1nstd102humanPathogenic GRCh37 chrX: 77,670,699-155,233,731 , GRCh38.p12 chrX: 78,415,202-156,004,066 H2AB1, GPR174, 1081 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
    nsv6315332copy number variation1nstd102humanPathogenic GRCh37 chrX: 62,685,885-155,233,731 , GRCh38.p12 chrX: 63,466,005-156,004,066 MAGT1, TAFAZZIN, 1337 more genes
    nsv6315331copy number variation4nstd102humanPathogenic GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 PLAC1, PGK1P1, 2154 more genes
    nsv6137629copy number variation1nstd213human GRCh37 chrX: 66,030,000-152,230,001 , GRCh38.p12 chrX: 66,810,158-153,061,271 ABCB7, AGTR2, 1162 more genes
    nsv6137587copy number variation1nstd213human GRCh37 chrX: 134,080,000-134,190,001 , GRCh38.p12 chrX: 134,945,970-135,055,971 RTL8C, RTL8A, 4 more genes
    nsv6137579copy number variation1nstd213human GRCh37 chrX: 114,940,000-134,860,001 , GRCh38.p12 chrX: 115,705,680-135,719,285 AGTR2, SLC25A5, 295 more genes
    nsv6137409copy number variation1nstd213human GRCh37 chrX: 73,710,000-151,990,001 , GRCh38.p12 chrX: 74,490,165-152,821,457 ABCB7, AGTR2, 991 more genes
    nsv6137362copy number variation1nstd213human GRCh37 chrX: 104,480,000-134,870,001 , GRCh38.p12 chrX: 105,235,316-135,719,285 AGTR2, SLC25A5, 423 more genes
    nsv6137221copy number variation1nstd213human GRCh37 chrX: 66,020,000-152,230,001 , GRCh38.p12 chrX: 66,800,158-153,061,271 ABCB7, AGTR2, 1162 more genes
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