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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964878copy number variation1nstd209human GRCh38 chr22: 39,227,514-39,227,743 , GRCh37.p13 chr22: 39,623,519-39,623,748 PDGFB
    nsv5712063mobile element insertion1nstd211human GRCh38 chr22: 39,228,894-39,228,894 , GRCh37.p13 chr22: 39,624,899-39,624,899 PDGFB
    nsv5602383copy number variation1nstd207human GRCh38 chr22: 39,227,514-39,227,743 , GRCh37.p13 chr22: 39,623,519-39,623,748 PDGFB
    nsv5558127sequence alteration1nstd206human GRCh38 chr22: 39,203,466-39,293,496 , GRCh37.p13 chr22: 39,599,471-39,689,501 PDGFB
    nsv5536490copy number variation1nstd206human GRCh38 chr22: 39,227,514-39,227,749 , GRCh37.p13 chr22: 39,623,519-39,623,754 PDGFB
    nsv5288097copy number variation1nstd204human GRCh38.p13 chr22: 38,982,101-39,534,900 , GRCh37.p13 chr22: 39,378,106-39,930,905 APOBEC3C, COX5BP7, 25 more genes
    nsv5033910copy number variation1nstd200human GRCh38 chr22: 39,237,705-39,237,815 , GRCh37.p13 chr22: 39,633,710-39,633,820 PDGFB
    nsv5029737copy number variation1nstd200human GRCh38 chr22: 39,227,514-39,227,749 , GRCh37.p13 chr22: 39,623,519-39,623,754 PDGFB
    nsv4883350copy number variation1nstd200human GRCh37 chr22: 39,633,710-39,633,820 , GRCh38.p12 chr22: 39,237,705-39,237,815 PDGFB
    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
    nsv4684334copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 39,629,440-39,639,968 , GRCh38.p12 chr22: 39,233,435-39,243,963 PDGFB
    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
    nsv4291844copy number variation1nstd166human GRCh37.p13 chr22: 39,561,526-39,742,368 , GRCh38.p12 chr22: 39,165,521-39,346,363 PDGFB, RPL3, 4 more genes
    nsv4285429copy number variation1nstd166human GRCh37.p13 chr22: 39,632,577-39,637,821 , GRCh38.p12 chr22: 39,236,572-39,241,816 PDGFB
    nsv4276345copy number variation1nstd166human GRCh37.p13 chr22: 39,620,292-39,620,485 , GRCh38.p12 chr22: 39,224,287-39,224,480 PDGFB
    nsv4274638copy number variation1nstd166human GRCh37.p13 chr22: 39,641,338-39,641,395 , GRCh38.p12 chr22: 39,245,333-39,245,390 PDGFB
    nsv3923309copy number variation1nstd102humanUncertain significance NCBI36 chr22: 37,873,393-39,965,372 , GRCh37.p13 chr22: 39,543,447-41,635,426 , GRCh38.p12 chr22: 39,147,442-41,239,422 MIR1281, CBX7, 57 more genes
    nsv3922654copy number variation1nstd102humanPathogenic GRCh38 chr22: 37,721,797-40,860,953 , GRCh37 chr22: 38,117,804-41,256,957 , NCBI36 chr22: 36,447,750-39,586,903 RPS29P31, UQCRFS1P1, 103 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
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