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Items: 1 to 20 of 222

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5518746copy number variation1nstd206human GRCh38 chr19: 45,233,921-45,349,653 , GRCh37.p13 chr19: 45,737,179-45,852,911 CKM, ERCC2, 5 more genes
    nsv5518652copy number variation1nstd206human GRCh38 chr19: 45,360,162-45,360,459 , GRCh37.p13 chr19: 45,863,420-45,863,717 ERCC2
    nsv5365856translocation1nstd200human GRCh38 chr19: 45,354,389-45,354,389 , GRCh38 chr19: 45,352,908-45,352,908 , GRCh37.p13 chr19: 45,857,647-45,857,647 , GRCh37.p13 chr19: 45,856,166-45,856,166 ERCC2
    nsv5359838translocation1nstd200human GRCh38 chr19: 45,353,072-45,353,072 , GRCh38 chr19: 45,354,397-45,354,397 , GRCh37.p13 chr19: 45,856,330-45,856,330 , GRCh37.p13 chr19: 45,857,655-45,857,655 ERCC2
    nsv5359837translocation1nstd200human GRCh38 chr19: 45,349,611-45,349,611 , GRCh38 chr19: 45,350,637-45,350,637 , GRCh37.p13 chr19: 45,852,869-45,852,869 , GRCh37.p13 chr19: 45,853,895-45,853,895 ERCC2, KLC3
    nsv5321129copy number variation1nstd204human GRCh38.p13 chr19: 45,342,285-45,355,446 , GRCh37.p13 chr19: 45,845,543-45,858,704 KLC3, ERCC2
    nsv5293342copy number variation1nstd204human GRCh38.p13 chr19: 45,332,633-45,373,994 , GRCh37.p13 chr19: 45,835,891-45,877,252 RPS16P9, KLC3, 1 more genes
    nsv5292484copy number variation1nstd204human GRCh38.p13 chr19: 45,333,101-45,397,400 , GRCh37.p13 chr19: 45,836,359-45,900,658 ERCC2, PPP1R13L, 2 more genes
    nsv5286983copy number variation1nstd204human GRCh38.p13 chr19: 45,342,902-45,354,870 , GRCh37.p13 chr19: 45,846,160-45,858,128 KLC3, ERCC2
    nsv5160157mobile element insertion1nstd203human GRCh38 chr19: 45,360,665-45,360,677 , GRCh37.p13 chr19: 45,863,923-45,863,935 ERCC2
    nsv5024722copy number variation1nstd200human GRCh38 chr19: 45,264,836-45,399,221 , GRCh37.p13 chr19: 45,768,094-45,902,479 CKM, PPP1R13L, 4 more genes
    nsv5024720copy number variation1nstd200human GRCh38 chr19: 45,233,941-45,349,633 , GRCh37.p13 chr19: 45,737,199-45,852,891 KLC3, CKM, 5 more genes
    nsv5020685copy number variation1nstd200human GRCh38 chr19: 45,358,116-45,360,139 , GRCh37.p13 chr19: 45,861,374-45,863,397 ERCC2
    nsv5020684copy number variation1nstd200human GRCh38 chr19: 45,355,943-45,358,288 , GRCh37.p13 chr19: 45,859,201-45,861,546 ERCC2
    nsv5020683copy number variation1nstd200human GRCh38 chr19: 45,350,711-45,350,824 , GRCh37.p13 chr19: 45,853,969-45,854,082 KLC3, ERCC2
    nsv4865210copy number variation1nstd200human GRCh37 chr19: 45,845,710-45,858,479 , GRCh38.p12 chr19: 45,342,452-45,355,221 KLC3, ERCC2
    nsv4676357copy number variation1nstd102humanPathogenic GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308 MIR4324, KLK9, 485 more genes
    nsv4676350copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,531,056-48,174,177 , GRCh38.p12 chr19: 45,027,798-47,670,920 NKPD1, IGFL1, 112 more genes
    nsv4676133copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,765,313-45,968,157 , GRCh38.p12 chr19: 45,262,055-45,464,899 MARK4, KLC3, 7 more genes
    nsv4632043copy number variation1nstd183human GRCh37 chr19: 45,850,705-45,903,474 , GRCh38.p12 chr19: 45,347,447-45,400,216 PPP1R13L, KLC3, 1 more genes
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