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Items: 1 to 20 of 362

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147253insertion1nstd232human GRCh37.p13 chrX: 133,609,393-133,609,393 , GRCh38.p12 chrX: 134,475,363-134,475,363 HPRT1
    nsv7141036insertion1nstd232human GRCh37.p13 chrX: 133,607,496-133,607,496 , GRCh38.p12 chrX: 134,473,466-134,473,466 HPRT1
    nsv7137188copy number variation1nstd102humanPathogenic GRCh38 chrX: 134,460,165-134,500,668 , GRCh37.p13 chrX: 133,594,195-133,634,698 HPRT1
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098587copy number variation1nstd102humanPathogenic GRCh37 chrX: 133,627,518-133,628,822 , GRCh38.p12 chrX: 134,493,488-134,494,792 HPRT1
    nsv7098343copy number variation1nstd102humanUncertain significance GRCh37 chrX: 132,670,152-133,634,107 , GRCh38.p12 chrX: 133,536,124-134,500,077 MIR19B2, PHF6, 14 more genes
    nsv7098228copy number variation1nstd102humanPathogenic GRCh37 chrX: 133,627,564-133,629,109 , GRCh38.p12 chrX: 134,493,534-134,495,079 HPRT1
    nsv7084107copy number variation1nstd229human GRCh38 chrX: 134,498,545-134,498,913 , GRCh37.p13 chrX: 133,632,575-133,632,943 HPRT1
    nsv7084106copy number variation1nstd229human GRCh38 chrX: 134,484,943-134,485,043 , GRCh37.p13 chrX: 133,618,973-133,619,073 HPRT1
    nsv7084104copy number variation1nstd229human GRCh38 chrX: 134,446,901-134,461,100 , GRCh37.p13 chrX: 133,580,931-133,595,130 HPRT1
    nsv7084103copy number variation1nstd229human GRCh38 chrX: 134,443,901-134,460,100 , GRCh37.p13 chrX: 133,577,931-133,594,130 HPRT1
    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
    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
    nsv6313036copy number variation1nstd102humanPathogenic GRCh37 chrX: 133,632,400-133,634,107 , GRCh38.p12 chrX: 134,498,370-134,500,077 HPRT1
    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
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