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Items: 1 to 20 of 169

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129493insertion1nstd186human GRCh37 chr22: 30,993,410-30,993,410 , GRCh38.p12 chr22: 30,597,423-30,597,423 PES1
    nsv5978853insertion1nstd209human GRCh38 chr22: 30,597,423-30,597,423 , GRCh37.p13 chr22: 30,993,410-30,993,410 PES1
    nsv5971788insertion1nstd209human GRCh38 chr22: 30,598,885-30,598,885 , GRCh37.p13 chr22: 30,994,872-30,994,872 PES1
    nsv5953437copy number variation1nstd209human GRCh38 chr22: 30,589,688-30,589,740 , GRCh37.p13 chr22: 30,985,675-30,985,727 PES1
    nsv5712978mobile element insertion1nstd211human GRCh38 chr22: 30,587,412-30,587,412 , GRCh37.p13 chr22: 30,983,399-30,983,399 PES1
    nsv5707406mobile element insertion2nstd211human GRCh38 chr22: 30,602,450-30,602,450 , GRCh37.p13 chr22: 30,998,437-30,998,437 PES1
    nsv5699208mobile element insertion2nstd211human GRCh38 chr22: 30,597,896-30,597,896 , GRCh37.p13 chr22: 30,993,883-30,993,883 PES1
    nsv5671234insertion1nstd207human GRCh38 chr22: 30,597,423-30,597,423 , GRCh37.p13 chr22: 30,993,410-30,993,410 PES1
    nsv5551140insertion1nstd206human GRCh38 chr22: 30,597,423-30,597,423 , GRCh37.p13 chr22: 30,993,410-30,993,410 PES1
    nsv5296723copy number variation1nstd204human GRCh38.p13 chr22: 30,598,901-30,601,400 , GRCh37.p13 chr22: 30,994,888-30,997,387 PES1
    nsv5293044copy number variation1nstd204human GRCh38.p13 chr22: 30,598,150-30,601,449 , GRCh37.p13 chr22: 30,994,137-30,997,436 PES1
    nsv5179456mobile element insertion1nstd203human GRCh38 chr22: 30,606,010-30,606,024 , GRCh37.p13 chr22: 31,001,997-31,002,011 PES1, TCN2
    nsv5166908mobile element insertion1nstd203human GRCh38 chr22: 30,578,444-30,578,458 , GRCh37.p13 chr22: 30,974,431-30,974,445 PES1
    nsv4757923insertion1nstd199human GRCh37 chr22: 30,993,418-30,993,418 , GRCh38.p12 chr22: 30,597,431-30,597,431 PES1
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4643544copy number variation2nstd186human GRCh37 chr22: 30,985,677-30,985,728 , GRCh38.p12 chr22: 30,589,690-30,589,741 PES1
    nsv4535996copy number variation1nstd166human GRCh37.p13 chr22: 30,985,677-30,985,728 , GRCh38.p12 chr22: 30,589,690-30,589,741 PES1
    nsv4506420mobile element insertion1nstd166human GRCh37.p13 chr22: 30,983,151-30,983,151 , GRCh38.p12 chr22: 30,587,164-30,587,164 PES1
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
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