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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