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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094120copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,921,357-110,034,382 , GRCh38.p12 chr12: 109,483,552-109,596,577 UBE3B, MVK, 2 more genes
    nsv6291583copy number variation1nstd102humanPathogenic GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997 UBE3B, LOC105369964, 147 more genes
    nsv3916234copy number variation1nstd102humanPathogenic NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686 UBE3B, LOC100287944, 141 more genes
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 UBE3B, ATP2A2, 115 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 UBE3B, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 UBE3B, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 UBE3B, 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 UBE3B, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 UBE3B, OR5BT1P, 2441 more genes
    nsv3893927copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 103,044,333-111,639,805 , GRCh38.p12 chr12: 102,650,555-111,202,001 UBE3B, ACACB, 150 more genes
    nsv3910716copy number variation1nstd102humanBenign NCBI36 chr12: 108,320,650-108,559,499 , GRCh37 chr12: 109,836,267-110,075,116 , GRCh38 chr12: 109,398,462-109,637,311 UBE3B, KCTD10, 4 more genes
    nsv3897473copy number variation1nstd102humanLikely benign GRCh37 chr12: 109,190,922-109,989,416 , GRCh38.p12 chr12: 108,797,146-109,551,611 UBE3B, MYO1H, 17 more genes
    nsv4675412copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,199,902-110,267,493 , GRCh38.p12 chr12: 108,806,126-109,829,688 UBE3B, FAM222A-AS1, 24 more genes
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