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Table 3 Results of shared gene analysis for CNVs with same copy number

From: A comprehensive analysis of copy number variation in a Turkish dementia cohort

Shared genes CN Sample (#|diagnosis) GnomAD-SV entirely spanning at least one CNV? # DGV observations Total # intersects with CNVs from UKBB dementia (CN=0|CN=1|CN=3|CN=4) Total # intersects with CNVs from UKBB non-dementia (CN=0|CN=1|CN=3|CN=4) Pathogenicity
BC039545 1 2|FTD No 0 No overlap No overlap Uncertain significance
AFG1L, SNX3* 3 1|FTD
1|dementia
Yes No overlap No overlap No overlap Uncertain significance
  1. FTD frontotemporal dementia, CN copy number, 0 homozygous deletion, 1 heterozygous deletion, 3 duplication, 4 triplication. See Supplementary Table 1 for details of exact CNVs and sample diagnoses. Asterisk (*) indicates a CNV also reported in our family analysis. No UKBB CNVs were significantly associated with dementia based on Fisher’s exact test