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Items: 1 to 20 of 961

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7097869copy number variation1nstd102humanPathogenic GRCh37 chr7: 144,288,496-144,320,374 , GRCh38.p12 chr7|NW_018654715.1: 641,134-673,012 , GRCh38.p12 chr7: 144,591,403-144,623,281 TPK1
    nsv7097611copy number variation1nstd102humanPathogenic GRCh37 chr7: 144,094,333-144,532,695 , GRCh38.p12 chr7: 144,397,240-144,835,602 , GRCh38.p12 chr7|NW_018654715.1: 446,707-680,662 NOBOX, EEF1A1P10, 3 more genes
    nsv7097489copy number variation1nstd102humanPathogenic GRCh37 chr7: 144,288,496-144,345,992 , GRCh38.p12 chr7|NW_018654715.1: 641,134-680,662 , GRCh38.p12 chr7: 144,591,403-144,648,899 TPK1, EEF1A1P10
    nsv7097487copy number variation1nstd102humanUncertain significance GRCh37 chr7: 144,094,333-144,463,064 , GRCh38.p12 chr7|NW_018654715.1: 446,707-680,662 , GRCh38.p12 chr7: 144,397,240-144,765,971 NOBOX, PPIAP83, 3 more genes
    nsv7097348copy number variation1nstd102humanUncertain significance GRCh37 chr7: 144,320,239-144,320,374 , GRCh38.p12 chr7|NW_018654715.1: 672,877-673,012 , GRCh38.p12 chr7: 144,623,146-144,623,281 TPK1
    nsv6315434copy number variation1nstd102humanUncertain significance GRCh37 chr7: 143,425,718-144,075,390 , GRCh38.p12 chr7|NW_018654715.1: 1-409,704 , GRCh38.p12 chr7: 143,728,625-144,378,297 ARHGEF5, ARHGEF34P, 41 more genes
    nsv6312532copy number variation1nstd102humanUncertain significance GRCh37 chr7: 144,094,333-144,150,776 , GRCh38.p12 chr7: 144,397,240-144,453,683 , GRCh38.p12 chr7|NW_018654715.1: 446,707-503,140 RNU6ATAC40P, NOBOX, 2 more genes
    nsv6312436copy number variation1nstd102humanUncertain significance GRCh37 chr7: 144,150,638-144,150,776 , GRCh38.p12 chr7: 144,453,545-144,453,683 , GRCh38.p12 chr7|NW_018654715.1: 503,002-503,140 TPK1
    nsv6312324copy number variation1nstd102humanUncertain significance GRCh37 chr7: 144,245,564-144,380,091 , GRCh38.p12 chr7: 144,548,471-144,682,998 , GRCh38.p12 chr7|NW_018654715.1: 598,207-680,662 TPK1, EEF1A1P10
    nsv6304518copy number variation1nstd186human GRCh37 chr7: 144,123,350-144,123,592 , GRCh38.p12 chr7: 144,426,257-144,426,499 , GRCh38.p12 chr7|NW_018654715.1: 475,713-475,955 0
    nsv6303952copy number variation1nstd186human GRCh37 chr7: 144,090,289-144,090,435 , GRCh38.p12 chr7|NW_018654715.1: 442,657-442,803 , GRCh38.p12 chr7: 144,393,196-144,393,342 0
    nsv6303052copy number variation1nstd186human GRCh37 chr7: 144,272,328-144,272,560 , GRCh38.p12 chr7: 144,575,235-144,575,467 , GRCh38.p12 chr7|NW_018654715.1: 624,966-625,198 TPK1
    nsv6302806copy number variation1nstd186human GRCh37 chr7: 144,142,645-144,144,340 , GRCh38.p12 chr7: 144,445,552-144,447,247 , GRCh38.p12 chr7|NW_018654715.1: 495,008-496,704 0
    nsv6135974copy number variation1nstd213human GRCh37 chr7: 144,020,000-144,670,001 , GRCh38.p12 chr7: 144,322,907-144,972,908 , GRCh38.p12 chr7|NW_018654715.1: 277,521-680,662 ARHGEF5, EEF1A1P10, 10 more genes
    nsv6135901copy number variation1nstd213human GRCh37 chr7: 143,560,000-143,950,001 , GRCh38.p12 chr7: 143,862,907-144,252,908 , GRCh38.p12 chr7|NW_018654715.1: 1-207,502 OR2Q1P, OR2A5, 23 more genes
    nsv6135571copy number variation1nstd213human GRCh37 chr7: 143,660,000-143,910,001 , GRCh38.p12 chr7: 143,962,907-144,212,908 , GRCh38.p12 chr7|NW_018654715.1: 1-167,467 OR2A15P, OR6B1, 17 more genes
    nsv6135570copy number variation1nstd213human GRCh37 chr7: 143,570,000-143,930,001 , GRCh38.p12 chr7: 143,872,907-144,232,908 , GRCh38.p12 chr7|NW_018654715.1: 1-187,502 OR6B1, OR2A41P, 21 more genes
    nsv5381544copy number variation1nstd102humanUncertain significance GRCh37 chr7: 144,245,564-144,245,715 , GRCh38.p12 chr7|NW_018654715.1: 598,207-598,358 , GRCh38.p12 chr7: 144,548,471-144,548,622 TPK1
    nsv5342982translocation1nstd200human GRCh37 chr7: 144,190,862-144,190,862 , GRCh37 chr7: 144,189,226-144,189,226 , GRCh38.p12 chr7: 144,493,769-144,493,769 , GRCh38.p12 chr7: 144,492,133-144,492,133 , GRCh38.p12 chr7|NW_018654715.1: 543,500-543,500 , GRCh38.p12 chr7|NW_018654715.1: 541,867-541,867 TPK1
    nsv4827285copy number variation1nstd200human GRCh37 chr7: 144,279,890-144,282,902 , GRCh38.p12 chr7: 144,582,797-144,585,809 , GRCh38.p12 chr7|NW_018654715.1: 632,528-635,540 TPK1
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