Table 1 Results from the analysis of CNVs in 7 Turkish families
From: A comprehensive analysis of copy number variation in a Turkish dementia cohort
Family | Position | # SNPs | Length (bases) | CN | Family members with CNV | GnomAD-SV spanning the entire CNV? | Gene | 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 |
|---|---|---|---|---|---|---|---|---|---|---|
C | Chr6:108570894-108694389 | 15 | 123,496 | 3 | Affected siblings | Inversions in 2 | AFG1L, SNX3 | No overlap | No overlap | Uncertain significance |
G | Chr7:12371801-12439672 | 35 | 67,872 | 3 | Affected father and affected son | Loss of function deletion in 1 | VWDE | No overlap | 1 (0|0|1|0) | Uncertain significance |