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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098993copy number variation1nstd102humanPathogenic GRCh38 chr2: 43,986,415-44,009,956 , GRCh37.p13 chr2: 44,213,554-44,237,095 LRPPRC
    nsv6311682copy number variation1nstd102humanPathogenic GRCh37 chr2: 44,200,736-44,223,096 , GRCh38.p12 chr2: 43,973,597-43,995,957 LRPPRC
    nsv7096505copy number variation1nstd102humanPathogenic GRCh37 chr2: 44,209,367-44,223,096 , GRCh38.p12 chr2: 43,982,228-43,995,957 LRPPRC
    nsv6311501copy number variation1nstd102humanPathogenic GRCh37 chr2: 44,200,736-44,209,583 , GRCh38.p12 chr2: 43,973,597-43,982,444 LRPPRC
    nsv7096162copy number variation1nstd102humanPathogenic GRCh37 chr2: 44,184,514-44,190,855 , GRCh38.p12 chr2: 43,957,375-43,963,716 LRPPRC
    nsv7096640copy number variation1nstd102humanPathogenic GRCh37 chr2: 44,184,514-44,187,783 , GRCh38.p12 chr2: 43,957,375-43,960,644 LRPPRC
    nsv7093548insertion1nstd102humanPathogenic GRCh37 chr2: 44,174,428-44,174,428 , GRCh38 chr2: 43,947,289-43,947,289 LRPPRC
    nsv5674301insertion1nstd102humanPathogenic GRCh37 chr2: 44,209,445-44,209,445 , GRCh38 chr2: 43,982,306-43,982,306 LRPPRC
    nsv7096161copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 44,143,180-44,145,434 , GRCh38.p12 chr2: 43,916,041-43,918,295 LRPPRC
    nsv6311680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 44,173,242-44,204,425 , GRCh38.p12 chr2: 43,946,103-43,977,286 LRPPRC
    nsv6311681copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 44,184,514-44,207,097 , GRCh38.p12 chr2: 43,957,375-43,979,958 LRPPRC
    nsv7093455delins1nstd102humanLikely pathogenic GRCh38 chr2: 43,982,203-43,982,285 , GRCh37 chr2: 44,209,342-44,209,424 LRPPRC
    nsv3887636copy number variation1nstd102humanUncertain significance GRCh37 chr2: 44,161,858-44,341,408 , GRCh38.p12 chr2: 43,934,719-44,114,269 LRPPRC
    nsv7096656copy number variation1nstd102humanUncertain significance GRCh37 chr2: 44,200,726-44,204,435 , GRCh38.p12 chr2: 43,973,587-43,977,296 LRPPRC
    nsv6311404copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 44,116,924-44,119,873 , GRCh38.p12 chr2: 43,889,785-43,892,734 LRPPRC, RNU6-1048P
    nsv3874506copy number variation1nstd102humanLikely benign GRCh37 chr2: 44,070,780-44,132,918 , GRCh38.p12 chr2: 43,843,641-43,905,779 LRPPRC, ABCG8, 3 more genes
    nsv3879126copy number variation1nstd102humanBenign GRCh37 chr2: 44,103,017-44,235,543 , GRCh38.p12 chr2: 43,875,878-44,008,404 LRPPRC, ABCG8, 2 more genes
    nsv6311679copy number variation1nstd102humanUncertain significance GRCh37 chr2: 44,113,362-44,223,145 , GRCh38.p12 chr2: 43,886,223-43,996,006 LRPPRC, RNU6-1048P, 1 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 LRPPRC, CYP1B1-AS1, 1649 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LRPPRC, LOC112268439, 3737 more genes
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