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Items: 1 to 20 of 534

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096197copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,806,102-129,076,137 , GRCh38.p12 chr2: 127,048,526-128,318,563 IWS1, ZFP91P1, 35 more genes
    nsv7095853copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,451,420-129,076,137 , GRCh38.p12 chr2: 126,693,844-128,318,563 SRMP3, DYNLT3P2, 41 more genes
    nsv7051453inversion1nstd229human GRCh38 chr2: 127,202,996-128,332,828 , GRCh37.p13 chr2: 127,960,572-129,090,402 WDR33, RNU4-48P, 32 more genes
    nsv6696491copy number variation1nstd229human GRCh38 chr2: 128,188,573-128,192,501 , GRCh37.p13 chr2: 128,946,147-128,950,075 UGGT1
    nsv6696273copy number variation1nstd229human GRCh38 chr2: 127,748,601-128,152,500 , GRCh37.p13 chr2: 128,506,175-128,910,074 POLR2D, RPS26P19, 11 more genes
    nsv6694316copy number variation1nstd229human GRCh38 chr2: 128,097,810-128,417,306 , GRCh37.p13 chr2: 128,855,384-129,174,880 SRMP3, LOC105373610, 6 more genes
    nsv6688828copy number variation1nstd229human GRCh38 chr2: 127,436,502-128,393,799 , GRCh37.p13 chr2: 128,194,078-129,151,373 LOC107985944, LOC105373610, 25 more genes
    nsv6687727copy number variation1nstd229human GRCh38 chr2: 128,166,541-128,170,039 , GRCh37.p13 chr2: 128,924,115-128,927,613 UGGT1
    nsv6687107copy number variation1nstd229human GRCh38 chr2: 128,065,644-128,123,906 , GRCh37.p13 chr2: 128,823,218-128,881,480 UGGT1
    nsv6684800copy number variation1nstd229human GRCh38 chr2: 127,963,301-128,132,900 , GRCh37.p13 chr2: 128,720,875-128,890,474 SAP130, UGGT1
    nsv6683540copy number variation1nstd229human GRCh38 chr2: 128,113,698-128,113,995 , GRCh37.p13 chr2: 128,871,272-128,871,569 UGGT1
    nsv6681230copy number variation1nstd229human GRCh38 chr2: 128,184,130-128,202,092 , GRCh37.p13 chr2: 128,941,704-128,959,666 UGGT1, DYNLT3P2, 1 more genes
    nsv6547976inversion1nstd223human GRCh38 chr2: 128,097,884-128,098,501 , GRCh37.p13 chr2: 128,855,458-128,856,075 UGGT1
    nsv6348429copy number variation1nstd223human GRCh38 chr2: 128,113,685-128,113,995 , GRCh37.p13 chr2: 128,871,259-128,871,569 UGGT1
    nsv6344049copy number variation1nstd223human GRCh38 chr2: 128,065,644-128,123,906 , GRCh37.p13 chr2: 128,823,218-128,881,480 UGGT1
    nsv6336678copy number variation1nstd223human GRCh38 chr2: 128,142,314-128,142,711 , GRCh37.p13 chr2: 128,899,888-128,900,285 UGGT1
    nsv6336041copy number variation1nstd223human GRCh38 chr2: 128,114,409-128,116,770 , GRCh37.p13 chr2: 128,871,983-128,874,344 UGGT1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
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