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Items: 1 to 20 of 952

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148079copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,612,218-47,693,997 , GRCh38.p12 chr2: 47,385,079-47,466,858 MSH2, EPCAM
    nsv7148057copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,630,331-47,672,796 , GRCh38.p12 chr2: 47,403,192-47,445,657 MSH2
    nsv7146776insertion1nstd232human GRCh37.p13 chr2: 47,693,944-47,693,944 , GRCh38.p12 chr2: 47,466,805-47,466,805 MSH2
    nsv7137797insertion1nstd232human GRCh37.p13 chr2: 47,637,513-47,637,513 , GRCh38.p12 chr2: 47,410,374-47,410,374 MSH2
    nsv7137158copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,657,081-47,710,368 , GRCh38.p12 chr2: 47,429,942-47,483,229 MSH2
    nsv7137078copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,482,114-47,665,324 , GRCh38.p12 chr2: 47,254,975-47,438,185 BCYRN1, EPCAM, 5 more genes
    nsv7137041copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,526,868-47,665,324 , GRCh38.p12 chr2: 47,299,729-47,438,185 BCYRN1, EPCAM, 4 more genes
    nsv7137031copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,630,205-47,710,368 , GRCh38.p12 chr2: 47,403,066-47,483,229 MSH2
    nsv7137027copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,630,205-47,702,163 , GRCh38.p12 chr2: 47,403,066-47,475,024 MSH2
    nsv7136968copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,596,286-47,672,686 , GRCh38.p12 chr2: 47,369,147-47,445,547 MSH2, MIR559, 1 more genes
    nsv7136958copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,596,286-47,710,368 , GRCh38.p12 chr2: 47,369,147-47,483,229 EPCAM, MSH2, 1 more genes
    nsv7099011copy number variation1nstd102humanLikely pathogenic GRCh38 chr2: 47,612,305-47,643,568 , GRCh37.p13 chr2: 47,839,444-47,870,707 MSH2
    nsv7099004copy number variation1nstd102humanLikely pathogenic GRCh38 chr2: 47,614,711-47,657,080 , GRCh37.p13 chr2: 47,841,850-47,884,219 MSH2
    nsv7098999copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 47,690,170-47,708,011 , GRCh38.p12 chr2: 47,463,031-47,480,872 MSH2
    nsv7098780copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,470,308-47,807,597 , GRCh38.p12 chr2: 47,243,169-47,580,458 BCYRN1, EPCAM, 7 more genes
    nsv7096884copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,637,213-47,637,531 , GRCh38.p12 chr2: 47,410,074-47,410,392 MSH2
    nsv7096883copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,635,530-47,693,957 , GRCh38.p12 chr2: 47,408,391-47,466,818 MSH2
    nsv7096882copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,635,062-47,643,578 , GRCh38.p12 chr2: 47,407,923-47,416,439 MSH2
    nsv7096881copy number variation1nstd102humanUncertain significance GRCh37 chr2: 47,606,898-47,710,120 , GRCh38.p12 chr2: 47,379,759-47,482,981 EPCAM, MSH2
    nsv7096880copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,596,645-47,690,303 , GRCh38.p12 chr2: 47,369,506-47,463,164 EPCAM, MSH2, 1 more genes
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