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Items: 1 to 20 of 971

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148176copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 216,190,126-216,251,196 , GRCh37.p13 chr1: 216,363,468-216,424,538 USH2A, MRPS18BP1, 1 more genes
    nsv7144128copy number variation1nstd232human GRCh37.p13 chr1: 216,085,797-216,085,856 , GRCh38.p12 chr1: 215,912,455-215,912,514 USH2A
    nsv7137087copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,138,660-216,270,555 , GRCh38.p12 chr1: 215,965,318-216,097,213 USH2A, USH2A-AS2
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv7098777copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 216,373,464-216,390,728 , GRCh38.p12 chr1: 216,200,122-216,217,386 USH2A, MRPS18BP1, 1 more genes
    nsv7095971copy number variation1nstd102humanUncertain significance GRCh37 chr1: 216,591,836-216,596,610 , GRCh38.p12 chr1: 216,418,494-216,423,268 USH2A
    nsv7095970copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,495,205-216,501,016 , GRCh38.p12 chr1: 216,321,863-216,327,674 USH2A
    nsv7095969copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,369,875-216,373,483 , GRCh38.p12 chr1: 216,196,533-216,200,141 USH2A, USH2A-AS1, 1 more genes
    nsv7095968copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,363,555-216,390,902 , GRCh38.p12 chr1: 216,190,213-216,217,560 USH2A-AS1, USH2A, 1 more genes
    nsv7095967copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,348,574-216,405,498 , GRCh38.p12 chr1: 216,175,232-216,232,156 USH2A, MRPS18BP1, 1 more genes
    nsv7095966copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,348,574-216,363,729 , GRCh38.p12 chr1: 216,175,232-216,190,387 USH2A
    nsv7095965copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,348,574-216,348,844 , GRCh38.p12 chr1: 216,175,232-216,175,502 USH2A
    nsv7095964copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,243,423-216,262,501 , GRCh38.p12 chr1: 216,070,081-216,089,159 USH2A, USH2A-AS2
    nsv7095963copy number variation1nstd102humanPathogenic GRCh37 chr1: 216,107,938-216,173,924 , GRCh38.p12 chr1: 215,934,596-216,000,582 USH2A
    nsv7095962copy number variation1nstd102humanPathogenic GRCh37 chr1: 215,940,023-216,108,137 , GRCh38.p12 chr1: 215,766,681-215,934,795 USH2A
    nsv7095961copy number variation1nstd102humanUncertain significance GRCh37 chr1: 215,931,917-215,933,205 , GRCh38.p12 chr1: 215,758,575-215,759,863 USH2A
    nsv7095960copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 215,914,697-215,914,899 , GRCh38.p12 chr1: 215,741,355-215,741,557 USH2A
    nsv7095959copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 215,812,487-215,824,153 , GRCh38.p12 chr1: 215,639,145-215,650,811 USH2A
    nsv7095958copy number variation1nstd102humanPathogenic GRCh37 chr1: 215,799,123-216,538,447 , GRCh38.p12 chr1: 215,625,781-216,365,105 USH2A, USH2A-AS2, 2 more genes
    nsv7095791copy number variation1nstd102humanUncertain significance GRCh37 chr1: 216,462,612-216,596,610 , GRCh38.p12 chr1: 216,289,270-216,423,268 USH2A
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