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Items: 1 to 20 of 306

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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
    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
    nsv7136976copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,596,286-47,614,168 , GRCh38.p12 chr2: 47,369,147-47,387,029 MIR559, EPCAM
    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
    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
    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
    nsv7096879copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,596,645-47,639,709 , GRCh38.p12 chr2: 47,369,506-47,412,570 EPCAM, MIR559, 1 more genes
    nsv7096662copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,612,295-47,643,578 , GRCh38.p12 chr2: 47,385,156-47,416,439 MSH2, EPCAM
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7096512copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,604,143-47,607,118 , GRCh38.p12 chr2: 47,377,004-47,379,979 MIR559, EPCAM
    nsv7096511copy number variation1nstd102humanUncertain significance GRCh37 chr2: 47,596,645-47,672,816 , GRCh38.p12 chr2: 47,369,506-47,445,677 MIR559, EPCAM, 1 more genes
    nsv7096510copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,596,645-47,637,521 , GRCh38.p12 chr2: 47,369,506-47,410,382 MSH2, MIR559, 1 more genes
    nsv7096167copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,604,133-47,612,369 , GRCh38.p12 chr2: 47,376,994-47,385,230 MIR559, EPCAM
    nsv7093139copy number variation1nstd102humanUncertain significance GRCh37 chr2: 47,596,341-47,596,701 , GRCh38.p12 chr2: 47,369,202-47,369,562 EPCAM
    nsv7053245inversion1nstd229human GRCh38 chr2: 47,066,950-47,608,798 , GRCh37.p13 chr2: 47,294,089-47,835,937 LOC107985882, EPCAM, 11 more genes
    nsv7038777inversion1nstd229human GRCh38 chr2: 47,156,434-47,761,545 , GRCh37.p13 chr2: 47,383,573-47,988,684 BCYRN1, LOC105374588, 12 more genes
    nsv6676605copy number variation1nstd229human GRCh38 chr2: 47,201,101-47,795,700 , GRCh37.p13 chr2: 47,428,240-48,022,839 LOC105374588, BCYRN1, 12 more genes
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