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Items: 1 to 20 of 342

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143717copy number variation1nstd232human GRCh37.p13 chrX: 128,696,476-128,696,573 , GRCh38.p12 chrX: 129,562,499-129,562,596 OCRL
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098582copy number variation1nstd102humanUncertain significance GRCh37 chrX: 128,674,417-128,679,034 , GRCh38.p12 chrX: 129,540,440-129,545,057 OCRL
    nsv7098223copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 128,699,729-128,701,360 , GRCh38.p12 chrX: 129,565,752-129,567,383 OCRL
    nsv7098222copy number variation1nstd102humanPathogenic GRCh37 chrX: 128,674,417-129,299,630 , GRCh38.p12 chrX: 129,540,440-130,165,656 LOC105373334, ZDHHC9, 11 more genes
    nsv7098115copy number variation1nstd102humanPathogenic GRCh37 chrX: 128,720,959-128,724,247 , GRCh38.p12 chrX: 129,586,982-129,590,270 OCRL
    nsv7098114copy number variation1nstd102humanPathogenic GRCh37 chrX: 128,674,417-128,674,820 , GRCh38.p12 chrX: 129,540,440-129,540,843 OCRL
    nsv7097988copy number variation1nstd102humanUncertain significance GRCh37 chrX: 128,674,417-128,975,921 , GRCh38.p12 chrX: 129,540,440-129,841,945 XPNPEP2, SASH3, 4 more genes
    nsv7097987copy number variation1nstd102humanPathogenic GRCh37 chrX: 128,674,417-128,696,783 , GRCh38.p12 chrX: 129,540,440-129,562,806 OCRL
    nsv7079002copy number variation1nstd229human GRCh38 chrX: 129,576,231-129,576,524 , GRCh37.p13 chrX: 128,710,208-128,710,501 OCRL
    nsv7079001copy number variation1nstd229human GRCh38 chrX: 129,571,834-129,572,207 , GRCh37.p13 chrX: 128,705,811-128,706,184 OCRL
    nsv7079000copy number variation1nstd229human GRCh38 chrX: 129,542,347-129,542,518 , GRCh37.p13 chrX: 128,676,324-128,676,495 OCRL
    nsv7078935copy number variation1nstd229human GRCh38 chrX: 128,814,142-129,676,667 , GRCh37.p13 chrX: 127,948,120-128,810,644 APLN, TJAP1P1, 7 more genes
    nsv7042777inversion1nstd229human GRCh38 chrX: 127,009,007-134,341,039 , GRCh37.p13 chrX: 126,142,990-133,475,069 ELF4, TJAP1P1, 97 more genes
    nsv6636493copy number variation1nstd102humanUncertain significance GRCh37 chrX: 127,753,972-129,202,285 , GRCh38.p12 chrX: 128,619,994-130,068,310 LOC107985684, UTP14A, 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
    nsv6634197copy number variation1nstd224human GRCh37 chrX: 128,690,832-128,893,417 , GRCh38.p12 chrX: 129,556,855-129,759,441 OCRL, LOC105373334, 2 more genes
    nsv6633766copy number variation1nstd224human GRCh37 chrX: 128,605,236-128,778,337 , GRCh38.p12 chrX: 129,471,259-129,644,360 APLN, OCRL, 1 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
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