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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6311022copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,478,583-45,479,635 , GRCh38.p12 chr1: 45,012,911-45,013,963 UROD
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 UROD, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 UROD, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 UROD, RNU1-153P, 4887 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 UROD, LOC107984940, 407 more genes
    nsv3888489copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184 UROD, CDKN2C, 141 more genes
    nsv4674088copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,386,263-45,982,314 , GRCh38.p12 chr1: 44,920,591-45,516,642 UROD, TOE1, 17 more genes
    nsv4674668copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,337,007-45,554,100 , GRCh38.p12 chr1: 44,871,335-45,088,428 UROD, PPIAP35, 7 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 UROD, LINC01776, 1853 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 UROD, LINC02786, 365 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 UROD, AKR1A1, 87 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 UROD, ZSWIM5, 79 more genes
    nsv3894172copy number variation1nstd102humanUncertain significance NCBI36 chr1: 45,200,617-45,823,521 , GRCh38 chr1: 44,962,358-45,585,262 , GRCh37 chr1: 45,428,030-46,050,934 UROD, EIF2B3, 18 more genes
    nsv3904737copy number variation1nstd102humanUncertain significance GRCh38 chr1: 44,713,837-45,282,899 , NCBI36 chr1: 44,952,096-45,521,158 , GRCh37 chr1: 45,179,509-45,748,571 UROD, LOC105378690, 26 more genes
    nsv4682227copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,288,077-45,805,936 , GRCh38.p12 chr1: 44,822,405-45,340,264 UROD, MUTYH, 14 more genes
    nsv3895659copy number variation1nstd102humanUncertain significance NCBI36 chr1: 45,055,389-45,468,666 , GRCh37 chr1: 45,282,802-45,696,079 , GRCh38 chr1: 44,817,130-45,230,407 UROD, RNA5SP47, 10 more genes
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