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Items: 1 to 20 of 302

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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
    nsv7083878copy number variation1nstd229human GRCh38 chrX: 132,210,248-132,452,656 , GRCh37.p13 chrX: 131,344,276-131,586,684 RAP2C-AS1, RAP2C, 1 more genes
    nsv7083877copy number variation1nstd229human GRCh38 chrX: 132,208,140-132,774,462 , GRCh37.p13 chrX: 131,342,168-131,908,490 MBNL3, HS6ST2-AS1, 4 more genes
    nsv7083868copy number variation1nstd229human GRCh38 chrX: 132,028,714-132,407,616 , GRCh37.p13 chrX: 131,162,742-131,541,644 MBNL3, AGKP2, 4 more genes
    nsv7083820copy number variation1nstd229human GRCh38 chrX: 131,629,094-132,442,954 , GRCh37.p13 chrX: 130,763,096-131,576,982 STK26, AGKP2, 9 more genes
    nsv7083819copy number variation1nstd229human GRCh38 chrX: 131,629,094-132,417,327 , GRCh37.p13 chrX: 130,763,096-131,551,355 HDGFP1, RAP2C, 9 more genes
    nsv7083814copy number variation1nstd229human GRCh38 chrX: 131,595,588-132,313,811 , GRCh37.p13 chrX: 130,729,562-131,447,839 FIRRE, PNKDP1, 10 more genes
    nsv7056871inversion1nstd229human GRCh38 chrX: 130,673,493-132,574,143 , GRCh37.p13 chrX: 129,807,467-131,708,171 OR1AA1P, RNA5SP514, 28 more genes
    nsv7056515inversion1nstd229human GRCh38 chrX: 131,850,772-132,421,133 , GRCh37.p13 chrX: 130,984,800-131,555,161 STK26, RNA5SP514, 5 more genes
    nsv7051833inversion1nstd229human GRCh38 chrX: 132,090,993-133,193,379 , GRCh37.p13 chrX: 131,225,021-132,327,407 NAA20P1, RNU6-98P, 9 more genes
    nsv7048758inversion1nstd229human GRCh38 chrX: 132,207,054-132,207,104 , GRCh37.p13 chrX: 131,341,082-131,341,132 RAP2C
    nsv7048567inversion1nstd229human GRCh38 chrX: 130,911,451-132,582,679 , GRCh37.p13 chrX: 130,045,425-131,716,707 RAP2C-AS1, FIRRE, 27 more genes
    nsv7047754inversion1nstd229human GRCh38 chrX: 132,215,147-132,215,225 , GRCh37.p13 chrX: 131,349,175-131,349,253 RAP2C
    nsv7043898inversion1nstd229human GRCh38 chrX: 132,177,029-132,368,625 , GRCh37.p13 chrX: 131,311,057-131,502,653 RAP2C-AS1, RAP2C, 1 more genes
    nsv7043882inversion1nstd229human GRCh38 chrX: 132,197,974-132,233,308 , GRCh37.p13 chrX: 131,332,002-131,367,336 RAP2C-AS1, RAP2C
    nsv7042777inversion1nstd229human GRCh38 chrX: 127,009,007-134,341,039 , GRCh37.p13 chrX: 126,142,990-133,475,069 ELF4, TJAP1P1, 97 more genes
    nsv7041211inversion1nstd229human GRCh38 chrX: 131,132,088-132,749,775 , GRCh37.p13 chrX: 130,266,062-131,883,803 RN7SL191P, OR7L1P, 27 more genes
    nsv6636888copy number variation1nstd102humanUncertain significance GRCh37 chrX: 130,954,765-131,477,342 , GRCh38.p12 chrX: 131,820,737-132,343,314 AGKP2, STK26, 5 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
    nsv6634389copy number variation1nstd102humanPathogenic GRCh37 chrX: 129,711,889-132,794,615 , GRCh38.p12 chrX: 130,577,915-133,660,587 LOC107985705, OR11Q1P, 40 more genes
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