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Items: 1 to 20 of 332

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148047copy number variation1nstd102humanUncertain significance GRCh38 chr1: 63,395,673-63,749,318 , GRCh37.p13 chr1: 63,861,344-64,214,989 LOC102724319, ITGB3BP, 8 more genes
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7096058copy number variation1nstd102humanPathogenic GRCh37 chr1: 63,836,639-63,902,701 , GRCh38.p12 chr1: 63,370,968-63,437,030 ALG6
    nsv7096000copy number variation1nstd102humanUncertain significance GRCh37 chr1: 63,090,910-63,902,691 , GRCh38.p12 chr1: 62,625,239-63,437,020 RPSAP65, LOC441887, 11 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7057380inversion1nstd229human GRCh38 chr1: 63,438,585-63,438,632 , GRCh37.p13 chr1: 63,904,256-63,904,303 ALG6
    nsv7049848inversion1nstd229human GRCh38 chr1: 63,377,773-63,382,919 , GRCh37.p13 chr1: 63,843,444-63,848,590 ALG6
    nsv7039143inversion1nstd229human GRCh38 chr1: 61,633,784-64,711,589 , GRCh37.p13 chr1: 62,099,456-65,177,272 MGC34796, RN7SL130P, 53 more genes
    nsv6653152copy number variation1nstd229human GRCh38 chr1: 63,437,900-63,439,375 , GRCh37.p13 chr1: 63,903,571-63,905,046 ALG6, ITGB3BP
    nsv6653151copy number variation1nstd229human GRCh38 chr1: 63,424,915-63,427,944 , GRCh37.p13 chr1: 63,890,586-63,893,615 ALG6
    nsv6653053copy number variation1nstd229human GRCh38 chr1: 63,415,335-63,428,316 , GRCh37.p13 chr1: 63,881,006-63,893,987 ALG6
    nsv6653051copy number variation1nstd229human GRCh38 chr1: 63,338,565-63,367,609 , GRCh37.p13 chr1: 63,804,236-63,833,280 ALG6, LOC441887
    nsv6652916copy number variation1nstd229human GRCh38 chr1: 63,420,201-63,425,300 , GRCh37.p13 chr1: 63,885,872-63,890,971 ALG6
    nsv6652915copy number variation1nstd229human GRCh38 chr1: 63,364,401-63,365,800 , GRCh37.p13 chr1: 63,830,072-63,831,471 ALG6
    nsv6652904copy number variation1nstd229human GRCh38 chr1: 63,105,227-63,388,192 , GRCh37.p13 chr1: 63,570,898-63,853,863 LOC105378770, LINC00466, 7 more genes
    nsv6626042copy number variation1nstd224human GRCh37 chr1: 63,753,736-64,059,403 , GRCh38.p12 chr1: 63,288,065-63,593,732 ITGB3BP, MIR6068, 11 more genes
    nsv6548901inversion1nstd223human GRCh38 chr1: 63,400,305-63,400,876 , GRCh37.p13 chr1: 63,865,976-63,866,547 ALG6
    nsv6548080inversion1nstd223human GRCh38 chr1: 63,374,947-63,375,482 , GRCh37.p13 chr1: 63,840,618-63,841,153 ALG6
    nsv6547141inversion1nstd223human GRCh38 chr1: 63,368,817-63,369,287 , GRCh37.p13 chr1: 63,834,488-63,834,958 ALG6
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