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Items: 1 to 20 of 271

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099177copy number variation1nstd231human GRCh38.p12 chr1: 12,639,743-13,111,010 , GRCh37 chr1: 12,699,764-13,178,482 PRAMEF1, PRAMEF2, 20 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7053624inversion1nstd229human GRCh38 chr1: 12,636,558-13,122,425 , GRCh37.p13 chr1: 12,996,150-13,689,213 , GRCh37.p13 chr1: 13,189,995-13,689,279 , GRCh37.p13 chr1: 12,696,563-13,189,898 PRAMEF4, AADACL3, 21 more genes
    nsv7052549inversion1nstd229human GRCh38 chr1: 8,322,830-13,737,741 , GRCh37.p13 chr1: 8,382,890-14,064,236 MIR4632, PLOD1, 166 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6641284copy number variation1nstd229human GRCh38 chr1: 12,752,866-12,760,935 , GRCh37.p13 chr1: 12,812,815-12,820,868 CFAP107
    nsv6641283copy number variation1nstd229human GRCh38 chr1: 12,746,558-12,749,498 , GRCh37.p13 chr1: 12,806,506-12,809,446 CFAP107
    nsv6641281copy number variation1nstd229human GRCh38 chr1: 12,740,301-12,813,000 , GRCh37.p13 chr1: 12,800,258-12,873,142 PRAMEF12, CFAP107, 1 more genes
    nsv6641279copy number variation1nstd229human GRCh38 chr1: 12,734,315-12,761,338 , GRCh37.p13 chr1: 12,794,278-12,821,271 CFAP107
    nsv6641149copy number variation1nstd229human GRCh38 chr1: 12,746,992-12,803,944 , GRCh37.p13 chr1: 12,806,940-12,864,080 PRAMEF12, CFAP107, 1 more genes
    nsv6641148copy number variation1nstd229human GRCh38 chr1: 12,745,414-12,749,229 , GRCh37.p13 chr1: 12,805,362-12,809,177 CFAP107
    nsv6641143copy number variation1nstd229human GRCh38 chr1: 12,671,714-12,859,402 , GRCh37.p13 chr1: 12,731,725-12,919,257 AADACL3, LINC01784, 7 more genes
    nsv6641060copy number variation1nstd229human GRCh38 chr1: 12,763,735-12,767,277 , GRCh37.p13 chr1: 12,823,883-12,827,428 CFAP107
    nsv6641059copy number variation1nstd229human GRCh38 chr1: 12,719,124-12,797,606 , GRCh37.p13 chr1: 12,779,126-12,857,755 PRAMEF1, CFAP107, 2 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6334674copy number variation1nstd223human GRCh38 chr1: 12,755,001-12,954,100 , GRCh37.p13 chr1: 12,814,950-12,948,043 PRAMEF12, HNRNPCL1, 12 more genes
    nsv6325673copy number variation1nstd223human GRCh38 chr1: 12,747,751-12,756,984 , GRCh37.p13 chr1: 12,807,699-12,816,934 CFAP107
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