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Items: 1 to 20 of 337

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130126insertion1nstd186human GRCh37 chr20: 62,123,516-62,123,516 , GRCh38.p12 chr20: 63,492,163-63,492,163 EEF1A2
    nsv6126421copy number variation1nstd186human GRCh37 chr20: 62,123,512-62,123,896 , GRCh38.p12 chr20: 63,492,159-63,492,543 EEF1A2
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv5972249insertion1nstd209human GRCh38 chr20: 63,490,023-63,490,023 , GRCh37.p13 chr20: 62,121,376-62,121,376 EEF1A2
    nsv5950630copy number variation1nstd209human GRCh38 chr20: 63,491,668-63,491,875 , GRCh37.p13 chr20: 62,123,021-62,123,228 EEF1A2
    nsv5673181copy number variation1nstd102humanPathogenic GRCh37 chr20: 62,076,002-62,324,646 , GRCh38.p12 chr20: 63,444,649-63,693,293 PPDPF, LOC105372725, 13 more genes
    nsv5670993insertion1nstd207human GRCh38 chr20: 63,492,159-63,492,159 , GRCh37.p13 chr20: 62,123,512-62,123,512 EEF1A2
    nsv5670886insertion1nstd207human GRCh38 chr20: 63,487,068-63,487,068 , GRCh37.p13 chr20: 62,118,421-62,118,421 EEF1A2
    nsv5670098insertion1nstd207human GRCh38 chr20: 63,493,063-63,493,063 , GRCh37.p13 chr20: 62,124,416-62,124,416 EEF1A2
    nsv5669371insertion1nstd207human GRCh38 chr20: 63,486,870-63,486,870 , GRCh37.p13 chr20: 62,118,223-62,118,223 EEF1A2
    nsv5666084insertion1nstd207human GRCh38 chr20: 63,486,901-63,486,901 , GRCh37.p13 chr20: 62,118,254-62,118,254 EEF1A2
    nsv5564168copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr20: 62,103,511-62,120,515 , GRCh38.p12 chr20: 63,472,158-63,489,162 KCNQ2, EEF1A2
    nsv5559866sequence alteration1nstd206human GRCh38 chr20: 62,865,770-63,725,218 , GRCh37.p13 chr20: 61,497,122-62,356,570 , PTK6, 46 more genes
    nsv5545886insertion1nstd206human GRCh38 chr20: 63,492,163-63,492,163 , GRCh37.p13 chr20: 62,123,516-62,123,516 EEF1A2
    nsv5530766copy number variation1nstd206human GRCh38 chr20: 63,492,159-63,492,543 , GRCh37.p13 chr20: 62,123,512-62,123,896 EEF1A2
    nsv5381809copy number variation1nstd102humanPathogenic GRCh37 chr20: 61,510,452-62,315,381 , GRCh38.p12 chr20: 62,879,100-63,684,028 MIR3196, NKAIN4, 40 more genes
    nsv5381226copy number variation1nstd102humanUncertain significance GRCh37 chr20: 62,073,739-62,129,136 , GRCh38.p12 chr20|NT_187625.1: 29,008-58,661 , GRCh38.p12 chr20: 63,442,386-63,497,783 KCNQ2-AS1, KCNQ2, 1 more genes
    nsv5381223copy number variation2nstd102humanUncertain significance GRCh37 chr20: 60,831,241-62,664,346 , GRCh38.p12 chr20: 62,256,185-64,032,993 KCNQ2-AS1, HAR1B, 100 more genes
    nsv5366201translocation1nstd200human GRCh38 chr20: 63,492,995-63,492,995 , GRCh38 chr20: 63,492,166-63,492,166 , GRCh37.p13 chr20: 62,124,348-62,124,348 , GRCh37.p13 chr20: 62,123,519-62,123,519 EEF1A2
    nsv5345351translocation1nstd200human GRCh37 chr20: 62,123,333-62,123,333 , GRCh37 chr20: 62,124,338-62,124,338 , GRCh38.p12 chr20: 63,491,980-63,491,980 , GRCh38.p12 chr20: 63,492,985-63,492,985 EEF1A2
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