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Items: 1 to 20 of 195

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5969341insertion1nstd209human GRCh38 chr22: 30,623,921-30,623,921 , GRCh37.p13 chr22: 31,019,908-31,019,908 TCN2
    nsv5956620copy number variation1nstd209human GRCh38 chr22: 30,623,952-30,624,063 , GRCh37.p13 chr22: 31,019,939-31,020,050 TCN2
    nsv5672059insertion1nstd207human GRCh38 chr22: 30,623,821-30,623,821 , GRCh37.p13 chr22: 31,019,808-31,019,808 TCN2
    nsv5668492insertion1nstd207human GRCh38 chr22: 30,623,965-30,623,965 , GRCh37.p13 chr22: 31,019,952-31,019,952 TCN2
    nsv5667220insertion1nstd207human GRCh38 chr22: 30,623,941-30,623,941 , GRCh37.p13 chr22: 31,019,928-31,019,928 TCN2
    nsv5595227copy number variation1nstd207human GRCh38 chr22: 30,623,787-30,623,862 , GRCh37.p13 chr22: 31,019,774-31,019,849 TCN2
    nsv5564413copy number variation1nstd102humanUncertain significance GRCh37 chr22: 31,008,840-31,013,502 , GRCh38.p12 chr22: 30,612,853-30,617,515 TCN2
    nsv5548097copy number variation1nstd206human GRCh38 chr22: 30,623,673-30,623,770 , GRCh37.p13 chr22: 31,019,660-31,019,757 TCN2
    nsv5547833copy number variation1nstd206human GRCh38 chr22: 30,618,608-30,621,786 , GRCh37.p13 chr22: 31,014,595-31,017,773 TCN2
    nsv5360494translocation1nstd200human GRCh38 chr22: 30,624,556-30,624,556 , GRCh38 chr22: 30,623,739-30,623,739 , GRCh37.p13 chr22: 31,020,543-31,020,543 , GRCh37.p13 chr22: 31,019,726-31,019,726 TCN2
    nsv5179456mobile element insertion1nstd203human GRCh38 chr22: 30,606,010-30,606,024 , GRCh37.p13 chr22: 31,001,997-31,002,011 PES1, TCN2
    nsv5034408copy number variation1nstd200human GRCh38 chr22: 30,611,752-30,624,301 , GRCh37.p13 chr22: 31,007,739-31,020,288 TCN2
    nsv4754097insertion1nstd199human GRCh37 chr22: 31,019,828-31,019,828 , GRCh38.p12 chr22: 30,623,841-30,623,841 TCN2
    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
    nsv4684070copy number variation1nstd102humanPathogenic GRCh37 chr22: 31,018,955-31,019,070 , GRCh38.p12 chr22: 30,622,968-30,623,083 TCN2
    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
    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
    nsv4450734copy number variation1nstd102humanPathogenic GRCh38 chr22: 30,612,853-30,615,807 , GRCh37 chr22: 31,008,840-31,011,794 TCN2
    nsv4447436insertion1nstd175human GRCh37 chr22: 31,019,714-31,019,714 , GRCh38.p12 chr22: 30,623,727-30,623,727 TCN2
    nsv4436827inversion1nstd102humanLikely pathogenic GRCh38.p12 chr22: 29,288,727-31,344,669 , GRCh37 chr22: 29,684,716-31,740,655 AP1B1, EWSR1, 81 more genes
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