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Items: 1 to 20 of 194

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv5948971insertion1nstd209human GRCh38 chr2: 127,266,304-127,266,304 , GRCh37.p13 chr2: 128,023,880-128,023,880 ERCC3
    nsv5692212mobile element insertion2nstd211human GRCh38 chr2: 127,266,305-127,266,305 , GRCh37.p13 chr2: 128,023,881-128,023,881 ERCC3
    nsv5616320insertion1nstd207human GRCh38 chr2: 127,266,287-127,266,287 , GRCh37.p13 chr2: 128,023,863-128,023,863 ERCC3
    nsv5568400copy number variation1nstd207human GRCh38 chr2: 127,292,369-127,292,423 , GRCh37.p13 chr2: 128,049,945-128,049,999 ERCC3
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5453254copy number variation1nstd206human GRCh38 chr2: 127,273,741-127,274,010 , GRCh37.p13 chr2: 128,031,317-128,031,586 ERCC3
    nsv5452312copy number variation1nstd206human GRCh38 chr2: 127,232,168-127,268,193 , GRCh37.p13 chr2: 127,989,744-128,025,769 ERCC3, WBP11P2
    nsv5380652translocation1nstd200human GRCh38 chr2: 127,298,259-127,298,259 , GRCh38 chr2: 127,269,507-127,269,507 , GRCh37.p13 chr2: 128,027,083-128,027,083 , GRCh37.p13 chr2: 128,055,835-128,055,835 ERCC3, MAP3K2
    nsv5380651translocation1nstd200human GRCh38 chr2: 127,265,088-127,265,088 , GRCh38 chr2: 127,316,221-127,316,221 , GRCh37.p13 chr2: 128,073,797-128,073,797 , GRCh37.p13 chr2: 128,022,664-128,022,664 ERCC3, MAP3K2, 1 more genes
    nsv5077443mobile element insertion1nstd203human GRCh38 chr2: 127,266,287-127,266,305 , GRCh37.p13 chr2: 128,023,863-128,023,881 ERCC3
    nsv5072122mobile element insertion1nstd203human GRCh38 chr2: 127,266,290-127,266,305 , GRCh37.p13 chr2: 128,023,866-128,023,881 ERCC3
    nsv5066627mobile element insertion1nstd203human GRCh38 chr2: 127,266,294-127,266,305 , GRCh37.p13 chr2: 128,023,870-128,023,881 ERCC3
    nsv5061118mobile element insertion1nstd203human GRCh38 chr2: 127,267,030-127,267,046 , GRCh37.p13 chr2: 128,024,606-128,024,622 ERCC3
    nsv5060164mobile element insertion1nstd203human GRCh38 chr2: 127,266,305-127,266,305 , GRCh37.p13 chr2: 128,023,881-128,023,881 ERCC3
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4925933copy number variation1nstd200human GRCh38 chr2: 127,258,861-127,262,280 , GRCh37.p13 chr2: 128,016,437-128,019,856 ERCC3
    nsv4923943copy number variation1nstd200human GRCh38 chr2: 127,082,776-127,279,485 , GRCh37.p13 chr2: 127,840,352-128,037,061 BIN1, ERCC3, 4 more genes
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