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 |