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Items: 1 to 20 of 167

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    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
    nsv7053245inversion1nstd229human GRCh38 chr2: 47,066,950-47,608,798 , GRCh37.p13 chr2: 47,294,089-47,835,937 LOC107985882, EPCAM, 11 more genes
    nsv7039759inversion1nstd229human GRCh38 chr2: 39,986,388-47,339,194 , GRCh37.p13 chr2: 40,213,528-47,566,333 RPL36AP14, CRIPT, 105 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
    nsv6671717copy number variation1nstd229human GRCh38 chr2: 47,327,239-47,437,686 , GRCh37.p13 chr2: 47,554,378-47,664,825 EPCAM-DT, MIR559, 4 more genes
    nsv6669512copy number variation1nstd229human GRCh38 chr2: 47,326,506-47,371,739 , GRCh37.p13 chr2: 47,553,645-47,598,878 EPCAM-DT, RN7SKP119, 2 more genes
    nsv6668719copy number variation1nstd229human GRCh38 chr2: 47,308,701-47,382,000 , GRCh37.p13 chr2: 47,535,840-47,609,139 EPCAM-DT, MIR559, 3 more genes
    nsv6659137copy number variation1nstd229human GRCh38 chr2: 47,335,790-47,335,854 , GRCh37.p13 chr2: 47,562,929-47,562,993 EPCAM-DT, BCYRN1
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6627940copy number variation1nstd224human GRCh37 chr2: 47,067,214-48,287,260 , GRCh38.p12 chr2: 46,840,075-48,060,121 TTC7A, MCFD2, 26 more genes
    nsv6350275copy number variation1nstd223human GRCh38 chr2: 47,329,477-47,349,623 , GRCh37.p13 chr2: 47,556,616-47,576,762 EPCAM-DT, BCYRN1
    nsv6345985copy number variation1nstd223human GRCh38 chr2: 47,329,528-47,377,257 , GRCh37.p13 chr2: 47,556,667-47,604,396 EPCAM-DT, MIR559, 3 more genes
    nsv6340890copy number variation1nstd223human GRCh38 chr2: 47,251,741-47,339,043 , GRCh37.p13 chr2: 47,478,880-47,566,182 EPCAM-DT, LOC107985882, 1 more genes
    nsv6338109copy number variation1nstd223human GRCh38 chr2: 47,326,506-47,371,736 , GRCh37.p13 chr2: 47,553,645-47,598,875 EPCAM-DT, BCYRN1, 2 more genes
    nsv6335855copy number variation1nstd223human GRCh38 chr2: 47,314,478-47,366,392 , GRCh37.p13 chr2: 47,541,617-47,593,531 EPCAM-DT, BCYRN1, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
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