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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
  1. CN copy number, 0 homozygous deletion, 1 heterozygous deletion, 3 duplication, 4 triplication. No UKBB CNVs were significantly associated with dementia based on Fisher’s exact test. Neither of these candidate CNVs intersected CNVs detected in the broader Turkish cohort