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Items: 1 to 20 of 177

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5962605copy number variation1nstd209human GRCh38 chr22: 27,913,717-27,913,877 , GRCh37.p13 chr22: 28,309,705-28,309,865 PITPNB
    nsv5949159copy number variation1nstd209human GRCh38 chr22: 27,853,663-27,854,852 , GRCh37.p13 chr22: 28,249,651-28,250,840 PITPNB
    nsv5707017mobile element insertion1nstd211human GRCh38 chr22: 27,859,951-27,859,951 , GRCh37.p13 chr22: 28,255,939-28,255,939 PITPNB
    nsv5702046mobile element insertion1nstd211human GRCh38 chr22: 27,912,642-27,912,642 , GRCh37.p13 chr22: 28,308,630-28,308,630 PITPNB
    nsv5669940insertion1nstd207human GRCh38 chr22: 27,859,944-27,859,944 , GRCh37.p13 chr22: 28,255,932-28,255,932 PITPNB
    nsv5552164copy number variation1nstd206human GRCh38 chr22: 27,865,895-27,866,183 , GRCh37.p13 chr22: 28,261,883-28,262,171 PITPNB
    nsv5551462copy number variation1nstd206human GRCh38 chr22: 27,864,624-27,864,691 , GRCh37.p13 chr22: 28,260,612-28,260,679 PITPNB
    nsv5537971copy number variation1nstd206human GRCh38 chr22: 27,906,420-27,906,634 , GRCh37.p13 chr22: 28,302,408-28,302,622 PITPNB
    nsv5414380mobile element insertion1nstd206human GRCh38 chr22: 27,859,951-27,860,002 , GRCh37.p13 chr22: 28,255,939-28,255,990 PITPNB
    nsv5366905translocation1nstd200human GRCh38 chr22: 27,851,674-27,851,674 , GRCh38 chr2: 238,433,213-238,433,213 , GRCh37.p13 chr22: 28,247,662-28,247,662 , GRCh37.p13 chr2: 239,341,854-239,341,854 ASB1, PITPNB
    nsv5366904translocation1nstd200human GRCh38 chr22: 27,911,110-27,911,110 , GRCh38 chr2: 238,433,201-238,433,201 , GRCh37.p13 chr2: 239,341,842-239,341,842 , GRCh37.p13 chr22: 28,307,098-28,307,098 PITPNB, ASB1
    nsv5171043mobile element insertion1nstd203human GRCh38 chr22: 27,912,628-27,912,642 , GRCh37.p13 chr22: 28,308,616-28,308,630 PITPNB
    nsv5165509mobile element insertion1nstd203human GRCh38 chr22: 27,885,212-27,885,252 , GRCh37.p13 chr22: 28,281,200-28,281,240 PITPNB
    nsv5162519mobile element insertion1nstd203human GRCh38 chr22: 27,859,944-27,859,951 , GRCh37.p13 chr22: 28,255,932-28,255,939 PITPNB
    nsv5037599copy number variation1nstd200human GRCh38 chr22: 27,906,420-27,906,634 , GRCh37.p13 chr22: 28,302,408-28,302,622 PITPNB
    nsv5037518copy number variation1nstd200human GRCh38 chr22: 27,865,895-27,866,183 , GRCh37.p13 chr22: 28,261,883-28,262,171 PITPNB
    nsv5030957copy number variation1nstd200human GRCh38 chr22: 27,844,529-27,853,972 , GRCh37.p13 chr22: 28,240,517-28,249,960 PITPNB
    nsv4869388copy number variation1nstd200human GRCh37 chr22: 28,309,705-28,309,869 , GRCh38.p12 chr22: 27,913,717-27,913,881 PITPNB
    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
    nsv4729897copy number variation1nstd102humanPathogenic GRCh37 chr22: 28,291,202-30,450,920 , GRCh38.p12 chr22: 27,895,214-30,054,931 RNU6-810P, THOC5, 48 more genes
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