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Items: 18

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    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3170341copy number variation1nstd45humanPathogenic GRCh38.p12 chr16: 68,737,290-68,835,542 , GRCh37 chr16: 68,771,193-68,869,445 CDH1, FTLP14, 1 more genes
    nsv3901852copy number variation1nstd102humanBenign GRCh37 chr12: 91,496,137-91,749,981 , GRCh38.p12 chr12: 91,102,360-91,356,204 LUM, DCN, 2 more genes
    nsv3922777copy number variation1nstd102humanPathogenic GRCh37 chr12: 73,879,477-93,189,581 , NCBI36 chr12: 72,165,744-91,713,712 , GRCh38 chr12: 73,485,697-92,795,805 LUM, RN7SL734P, 195 more genes
    nsv4456763copy number variation1nstd102humanPathogenic GRCh37 chr12: 77,737,623-94,330,526 , GRCh38.p12 chr12: 77,343,843-93,936,750 LUM, MIR1252, 162 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 LUM, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 LUM, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 LUM, RNU4ATAC16P, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 LUM, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 LUM, OR5BT1P, 2441 more genes
    nsv3924338copy number variation1nstd102humanPathogenic NCBI36 chr12: 89,962,226-108,055,398 , GRCh38 chr12: 91,044,318-109,133,210 , GRCh37 chr12: 91,438,095-109,571,015 LUM, NUP37, 295 more genes
    nsv3911770copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 89,914,416-93,790,725 , GRCh37 chr12: 91,390,285-95,266,594 , GRCh38 chr12: 90,996,508-94,872,818 LUM, BTG1, 63 more genes
    nsv3905832copy number variation1nstd102humanBenign GRCh37 chr12: 91,352,710-91,776,390 , GRCh38.p12 chr12: 90,958,933-91,382,613 LUM, DCN, 5 more genes
    nsv3892392copy number variation1nstd102humanUncertain significance GRCh37 chr12: 90,881,837-91,582,957 , GRCh38.p12 chr12: 90,488,060-91,189,180 LUM, DCN, 6 more genes
    nsv3906913copy number variation1nstd102humanUncertain significance GRCh37 chr12: 87,654,236-91,893,923 , GRCh38.p12 chr12: 87,260,459-91,500,146 LUM, ATP2B1, 53 more genes
    nsv6313949copy number variation1nstd102humanUncertain significance GRCh37 chr12: 91,073,628-92,829,926 , GRCh38.p12 chr12: 90,679,851-92,436,150 LUM, LOC105369896, 20 more genes
    nsv3904992copy number variation1nstd102humanUncertain significance GRCh37 chr12: 90,910,083-91,560,392 , GRCh38.p12 chr12: 90,516,306-91,166,615 LUM, DCN, 6 more genes
    nsv3920080copy number variation1nstd102humanUncertain significance NCBI36 chr12: 89,115,205-90,156,912 , GRCh38 chr12: 90,197,297-91,239,004 , GRCh37 chr12: 90,591,074-91,632,781 LUM, KERA, 8 more genes
    nsv4729322copy number variation1nstd102humanUncertain significance GRCh37 chr12: 90,629,021-91,543,515 , GRCh38.p12 chr12: 90,235,244-91,149,738 LUM, DCN, 8 more genes
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