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Items: 1 to 20 of 352

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7144379copy number variation1nstd232human GRCh37.p13 chr2: 128,737,073-128,737,161 , GRCh38.p12 chr2: 127,979,499-127,979,587 SAP130
    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
    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
    nsv6695555copy number variation1nstd229human GRCh38 chr2: 127,967,456-127,971,646 , GRCh37.p13 chr2: 128,725,030-128,729,220 SAP130
    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
    nsv6685609copy number variation1nstd229human GRCh38 chr2: 127,979,504-127,979,588 , GRCh37.p13 chr2: 128,737,078-128,737,162 SAP130
    nsv6684800copy number variation1nstd229human GRCh38 chr2: 127,963,301-128,132,900 , GRCh37.p13 chr2: 128,720,875-128,890,474 SAP130, UGGT1
    nsv6683661copy number variation1nstd229human GRCh38 chr2: 127,957,385-127,961,156 , GRCh37.p13 chr2: 128,714,959-128,718,730 SAP130
    nsv6555328inversion1nstd223human GRCh38 chr2: 127,970,211-127,970,958 , GRCh37.p13 chr2: 128,727,785-128,728,532 SAP130
    nsv6555290inversion1nstd223human GRCh38 chr2: 128,011,901-128,012,412 , GRCh37.p13 chr2: 128,769,475-128,769,986 SAP130
    nsv6553749inversion1nstd223human GRCh38 chr2: 128,005,484-128,005,684 , GRCh37.p13 chr2: 128,763,058-128,763,258 SAP130
    nsv6544192inversion1nstd223human GRCh38 chr2: 127,972,689-127,973,247 , GRCh37.p13 chr2: 128,730,263-128,730,821 SAP130
    nsv6538420inversion1nstd223human GRCh38 chr2: 127,939,201-127,939,734 , GRCh37.p13 chr2: 128,696,775-128,697,308 SAP130
    nsv6538362inversion1nstd223human GRCh38 chr2: 127,992,139-127,994,360 , GRCh37.p13 chr2: 128,749,713-128,751,934 SAP130
    nsv6351329copy number variation1nstd223human GRCh38 chr2: 128,026,901-128,027,400 , GRCh37.p13 chr2: 128,784,475-128,784,974 SAP130
    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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