Table 1 CNV summary statistics for cases and controls stratified by race/ethnicity
# Participants (Male/Female)Type# VariantsAverage per PersonSize Range (kb)Median Size (kb)
CaucasiansCases DS+AVSD77/97Deletions660.381.8–159.210.7
Duplications310.1811.6–395.123.1
Controls DS+NH104/77Deletions710.391.8–239.110.7
Duplications230.1310.4–200.018.0
African AmericansCases DS+AVSD6/18Deletions361.502.1–44.14.4
Duplications10.04491.9491.9
Controls DS+NH18/12Deletions421.402.1–260.37.2
Duplications40.134.5–14.410.9
  • Cases (DS+AVSD) are defined as those with Down syndrome and complete atrioventricular septal defect. Controls (DS+NH) are individuals with Down syndrome without a congenital heart defect.