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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5916241copy number variation1nstd209human GRCh38 chr11: 45,258,305-45,259,126 , GRCh37.p13 chr11: 45,279,856-45,280,677 SYT13
    nsv5907868copy number variation1nstd209human GRCh38 chr11: 45,238,788-45,238,843 , GRCh37.p13 chr11: 45,260,339-45,260,394 SYT13
    nsv5584866copy number variation1nstd207human GRCh38 chr11: 45,238,788-45,238,843 , GRCh37.p13 chr11: 45,260,339-45,260,394 SYT13
    nsv5380796copy number variation1nstd102humanPathogenic GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397 FAUP4, MMP7, 2031 more genes
    nsv4970922copy number variation1nstd200human GRCh38 chr11: 45,280,734-45,283,315 , GRCh37.p13 chr11: 45,302,285-45,304,866 SYT13
    nsv4970921copy number variation1nstd200human GRCh38 chr11: 45,258,310-45,259,127 , GRCh37.p13 chr11: 45,279,861-45,280,678 SYT13
    nsv4835874copy number variation1nstd200human GRCh37 chr11: 45,266,014-45,266,096 , GRCh38.p12 chr11: 45,244,463-45,244,545 SYT13
    nsv4833014copy number variation1nstd200human GRCh37 chr11: 45,279,861-45,280,678 , GRCh38.p12 chr11: 45,258,310-45,259,127 SYT13
    nsv4751865inversion1nstd199human GRCh37 chr11: 1,620,303-71,272,233 , GRCh38.p12 chr11: 1,599,073-71,561,187 , ACP2, 1686 more genes
    nsv4741272copy number variation1nstd199human GRCh37 chr11: 3,487,146-67,605,076 , GRCh38.p12 chr11: 3,465,916-67,837,605 , DRAP1, 1535 more genes
    nsv4729649copy number variation1nstd102humanUncertain significance GRCh37 chr11: 44,266,593-46,123,796 , GRCh38.p12 chr11: 44,245,043-46,102,245 LOC105376654, PHF21A, 31 more genes
    nsv4489083mobile element insertion1nstd166human GRCh37.p13 chr11: 45,281,706-45,281,706 , GRCh38.p12 chr11: 45,260,155-45,260,155 SYT13
    nsv4484502mobile element insertion1nstd166human GRCh37.p13 chr11: 45,269,486-45,269,486 , GRCh38.p12 chr11: 45,247,935-45,247,935 SYT13
    nsv4211025copy number variation1nstd166human GRCh37.p13 chr11: 45,279,861-45,280,678 , GRCh38.p12 chr11: 45,258,310-45,259,127 SYT13
    nsv4209072copy number variation1nstd166human GRCh37.p13 chr11: 45,303,242-45,305,244 , GRCh38.p12 chr11: 45,281,691-45,283,693 SYT13
    nsv4193133copy number variation1nstd166human GRCh37.p13 chr11: 45,260,318-45,260,395 , GRCh38.p12 chr11: 45,238,767-45,238,844 SYT13
    nsv3924778copy number variation1nstd102humanPathogenic GRCh38 chr11: 41,118,322-48,643,003 , GRCh37 chr11: 41,139,872-48,664,555 , NCBI36 chr11: 41,096,448-48,621,131 F2, PSMC3, 140 more genes
    nsv3922177copy number variation1nstd102humanPathogenic GRCh38 chr11: 35,663,578-46,959,820 , GRCh37 chr11: 35,685,126-46,981,371 , NCBI36 chr11: 35,641,702-46,937,947 MIR3160-2, LOC105376631, 122 more genes
    nsv3921841copy number variation1nstd102humanPathogenic NCBI36 chr11: 42,531,785-46,092,919 , GRCh37 chr11: 42,575,209-46,136,343 , GRCh38 chr11: 42,553,659-46,114,792 PEX16, LOC105376655, 51 more genes
    nsv3919271copy number variation1nstd102humanPathogenic GRCh38 chr11: 44,136,593-46,121,139 , NCBI36 chr11: 44,114,719-46,099,266 , GRCh37 chr11: 44,158,143-46,142,690 LOC105376646, ALX4, 31 more genes
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