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Items: 1 to 20 of 477

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6116390mobile element insertion1nstd186human GRCh37 chr22: 50,273,380-50,273,406 , GRCh38.p12 chr22: 49,879,732-49,879,758 ZBED4, ALG12
    nsv6112794copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,099,570-51,187,115 , GRCh38.p12 chr22: 49,705,922-50,748,687 SCO2, CIMAP1B, 50 more genes
    nsv5961363copy number variation1nstd209human GRCh38 chr22: 49,856,634-49,856,777 , GRCh37.p13 chr22: 50,250,282-50,250,425 ZBED4
    nsv5959721copy number variation1nstd209human GRCh38 chr22: 49,860,838-49,865,071 , GRCh37.p13 chr22: 50,254,486-50,258,719 ZBED4, ALG12
    nsv5878243copy number variation1nstd209human GRCh38 chr22: 49,872,654-49,874,603 , GRCh37.p13 chr22: 50,266,302-50,268,251 ZBED4, ALG12
    nsv5871167copy number variation1nstd209human GRCh38 chr22: 49,860,902-49,865,153 , GRCh37.p13 chr22: 50,254,550-50,258,801 ZBED4, ALG12
    nsv5695746mobile element insertion2nstd211human GRCh38 chr22: 49,879,732-49,879,732 , GRCh37.p13 chr22: 50,273,380-50,273,380 ALG12, ZBED4
    nsv5667233insertion1nstd207human GRCh38 chr22: 49,879,746-49,879,746 , GRCh37.p13 chr22: 50,273,394-50,273,394 ZBED4, ALG12
    nsv5604128copy number variation1nstd207human GRCh38 chr22: 49,879,725-49,879,808 , GRCh37.p13 chr22: 50,273,373-50,273,456 ZBED4, ALG12
    nsv5591524copy number variation1nstd207human GRCh38 chr22: 49,856,625-49,856,720 , GRCh37.p13 chr22: 50,250,273-50,250,368 ZBED4
    nsv5546709insertion1nstd206human GRCh38 chr22: 49,863,434-49,863,472 , GRCh37.p13 chr22: 50,257,082-50,257,120 ALG12, ZBED4
    nsv5538957copy number variation1nstd206human GRCh38 chr22: 49,860,840-49,865,072 , GRCh37.p13 chr22: 50,254,488-50,258,720 ZBED4, ALG12
    nsv5535454copy number variation1nstd206human GRCh38 chr22: 49,864,587-49,864,766 , GRCh37.p13 chr22: 50,258,235-50,258,414 ZBED4, ALG12
    nsv5424291mobile element insertion1nstd206human GRCh38 chr22: 49,879,732-49,879,758 , GRCh37.p13 chr22: 50,273,380-50,273,406 ZBED4, ALG12
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5360702translocation1nstd200human GRCh38 chr22: 49,878,277-49,878,277 , GRCh38 chr22: 49,878,352-49,878,352 , GRCh37.p13 chr22: 50,271,925-50,271,925 , GRCh37.p13 chr22: 50,272,000-50,272,000 ZBED4, ALG12
    nsv5344476translocation1nstd200human GRCh37 chr22: 50,272,000-50,272,000 , GRCh37 chr22: 50,271,925-50,271,925 , GRCh38.p12 chr22: 49,878,277-49,878,277 , GRCh38.p12 chr22: 49,878,352-49,878,352 ZBED4, ALG12
    nsv5286120copy number variation1nstd204human GRCh38.p13 chr22: 49,854,401-49,926,600 , GRCh37.p13 chr22: 50,248,049-50,320,248 , CRELD2, 2 more genes
    nsv5179512mobile element insertion1nstd203human GRCh38 chr22: 49,879,648-49,879,648 , GRCh37.p13 chr22: 50,273,296-50,273,296 ZBED4, ALG12
    nsv5178435mobile element insertion1nstd203human GRCh38 chr22: 49,858,775-49,858,789 , GRCh37.p13 chr22: 50,252,423-50,252,437 ALG12, ZBED4
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