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Items: 1 to 20 of 308

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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
    nsv7098681copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 99,551,275-101,097,764 , GRCh38.p12 chrX: 100,296,277-101,842,792 TMEM35A, TNMD, 43 more genes
    nsv7098559copy number variation1nstd102humanPathogenic GRCh37 chrX: 99,551,275-100,099,087 , GRCh38.p12 chrX: 100,296,277-100,844,098 NOX1, PPIAP89, 8 more genes
    nsv7090424copy number variation1nstd229human GRCh38 chrX: 100,636,489-100,646,157 , GRCh37.p13 chrX: 99,891,486-99,901,154 SRPX2, TSPAN6
    nsv7055859inversion1nstd229human GRCh38 chrX: 97,018,286-100,819,204 , GRCh37.p13 chrX: 96,273,285-100,074,193 RN7SL74P, PPIAP89, 21 more genes
    nsv7048382inversion1nstd229human GRCh38 chrX: 100,623,988-100,627,480 , GRCh37.p13 chrX: 99,878,985-99,882,477 TSPAN6
    nsv7045273inversion1nstd229human GRCh38 chrX: 100,628,095-100,628,200 , GRCh37.p13 chrX: 99,883,092-99,883,197 TSPAN6
    nsv6636543copy number variation1nstd102humanPathogenic GRCh37 chrX: 93,805,850-118,913,329 , GRCh38.p12 chrX: 94,550,851-119,779,366 TRPC5OS, LOC105373314, 351 more genes
    nsv6634329copy number variation1nstd102humanPathogenic GRCh37 chrX: 76,794,355-119,282,836 , GRCh38.p12 chrX: 77,538,874-120,148,930 NXF4, RHOXF1P1, 489 more genes
    nsv6634242copy number variation1nstd224human GRCh37 chrX: 1-155,270,560 , GRCh38.p12 chrX: 10,001-156,030,895 NR0B1, ALAS2, 2154 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
    nsv6313391copy number variation1nstd102humanUncertain significance GRCh37 chrX: 99,842,716-100,570,618 , GRCh38.p12 chrX: 100,587,719-101,315,630 RAD21P1, TMEM35A, 19 more genes
    nsv6290661copy number variation1nstd102humanUncertain significance GRCh37 chrX: 99,589,130-102,138,180 , GRCh38.p12 chrX: 100,334,132-102,883,252 LOC105373299, RPL36A, 80 more genes
    nsv6231390copy number variation1nstd214human GRCh38 chrX: 100,625,027-100,625,120 , GRCh37.p13 chrX: 99,880,024-99,880,117 TSPAN6
    nsv6208834insertion1nstd214human GRCh38 chrX: 100,634,505-100,634,505 , GRCh37.p13 chrX: 99,889,502-99,889,502 TSPAN6
    nsv6137666copy number variation1nstd102humanPathogenic GRCh37 chrX: 91,829,757-113,050,225 , GRCh38.p12 chrX: 92,574,758-113,806,943 TCEAL8, MTND5P26, 272 more genes
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