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Items: 1 to 20 of 174

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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
    nsv6641277copy number variation1nstd229human GRCh38 chr1: 12,710,588-12,715,685 , GRCh37.p13 chr1: 12,770,590-12,775,688 AADACL3
    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
    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
    nsv6641058copy number variation1nstd229human GRCh38 chr1: 12,718,257-12,727,995 , GRCh37.p13 chr1: 12,778,260-12,787,962 AADACL3
    nsv6641057copy number variation1nstd229human GRCh38 chr1: 12,716,125-12,722,546 , GRCh37.p13 chr1: 12,776,128-12,782,538 AADACL3
    nsv6641047copy number variation1nstd229human GRCh38 chr1: 12,672,907-12,733,570 , GRCh37.p13 chr1: 12,732,918-12,793,533 AADACL3
    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
    nsv6634823copy number variation1nstd227human GRCh38.p12 chr1: 12,671,561-12,738,534 , GRCh37 chr1: 12,731,572-12,798,493 AADACL3
    nsv6327595copy number variation1nstd223human GRCh38 chr1: 12,715,500-12,716,123 , GRCh37.p13 chr1: 12,775,503-12,776,126 AADACL3
    nsv6318496copy number variation1nstd223human GRCh38 chr1: 12,727,526-12,728,409 , GRCh37.p13 chr1: 12,787,493-12,788,376 AADACL3
    nsv6315241copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 10,115,497-16,283,149 , GRCh37.p13 chr1: 10,175,555-16,609,644 CASP9, CD24P1, 173 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
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