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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6309654copy number variation1nstd102humanUncertain significance GRCh37 chr16: 19,083,230-19,089,480 , GRCh38.p12 chr16: 19,071,908-19,078,158 COQ7
    nsv7094762copy number variation1nstd102humanUncertain significance GRCh37 chr16: 19,085,223-19,089,480 , GRCh38.p12 chr16: 19,073,901-19,078,158 COQ7
    nsv7094564copy number variation1nstd102humanUncertain significance GRCh37 chr16: 19,078,987-19,085,377 , GRCh38.p12 chr16: 19,067,665-19,074,055 COQ7, COQ7-DT
    nsv6310064copy number variation1nstd102humanUncertain significance GRCh37 chr16: 19,078,987-19,079,079 , GRCh38.p12 chr16: 19,067,665-19,067,757 COQ7-DT, COQ7
    nsv3894479copy number variation1nstd102humanBenign GRCh37 chr16: 19,090,726-19,208,505 , GRCh38.p12 chr16: 19,079,404-19,197,183 SYT17, ITPRIPL2, 1 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 CLK1, DAZAP2P1, 2991 more genes
    nsv3894939copy number variation1nstd102humanPathogenic NCBI36 chr2: 175,471,822-204,514,516 , GRCh37 chr2: 175,763,576-204,806,271 , GRCh38 chr2: 174,898,848-203,941,548 CLK1, TRE-TTC9-1, 412 more genes
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 CLK1, LOC107985785, 381 more genes
    nsv3899404copy number variation1nstd102humanPathogenic NCBI36 chr2: 176,877,419-202,612,758 , GRCh37 chr2: 177,169,173-202,904,513 , GRCh38 chr2: 176,304,445-202,039,790 CLK1, LINC01877, 326 more genes
    nsv3896612copy number variation1nstd102humanPathogenic GRCh38 chr2: 192,938,826-215,705,052 , NCBI36 chr2: 193,511,797-216,278,020 , GRCh37 chr2: 193,803,552-216,569,775 CLK1, MTND4P30, 320 more genes
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 CLK1, LOC100421409, 310 more genes
    nsv3891560copy number variation1nstd102humanPathogenic GRCh38 chr2: 186,027,472-201,059,372 , NCBI36 chr2: 186,600,444-201,632,340 , GRCh37 chr2: 186,892,199-201,924,095 CLK1, AOX1, 174 more genes
    nsv3884912copy number variation1nstd102humanPathogenic GRCh37 chr2: 191,750,202-202,297,376 , GRCh38.p12 chr2: 190,885,476-201,432,653 CLK1, RNU6-762P, 134 more genes
    nsv3903696copy number variation1nstd102humanPathogenic NCBI36 chr2: 200,510,241-210,604,893 , GRCh37 chr2: 200,801,996-210,896,648 , GRCh38 chr2: 199,937,273-210,031,924 CLK1, MTND4P23, 206 more genes
    nsv3895332copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,811,217-210,849,919 , GRCh38 chr2: 199,946,494-209,985,195 , NCBI36 chr2: 200,519,462-210,558,164 CLK1, CCNYL1, 203 more genes
    nsv3881119copy number variation1nstd102humanPathogenic GRCh37 chr2: 193,537,927-202,027,736 , GRCh38.p12 chr2: 192,673,201-201,163,013 CLK1, LOC105376755, 107 more genes
    nsv3908231copy number variation1nstd102humanPathogenic NCBI36 chr2: 196,233,563-204,542,456 , GRCh38 chr2: 195,660,594-203,969,488 , GRCh37 chr2: 196,525,318-204,834,211 CLK1, LINC01877, 170 more genes
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 CLK1, RN7SKP200, 179 more genes
    nsv3876959copy number variation1nstd102humanPathogenic GRCh37 chr2: 194,581,315-201,752,422 , GRCh38.p12 chr2: 193,716,591-200,887,699 CLK1, LOC101927741, 87 more genes
    nsv4674597copy number variation1nstd102humanPathogenic GRCh37 chr2: 201,106,432-204,901,548 , GRCh38.p12 chr2: 200,241,709-204,036,825 CLK1, KIAA2012-AS1, 113 more genes
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