Fig. 1: Summary of the identified dnSVs in the rare disease programme of the 100,000 Genomes Project.
From: Complex de novo structural variants are an underestimated cause of rare disorders
a Comparison of the proportion of probands with dnSVs between those with diagnostic SNVs and/or indels and those without. The P-values were calculated using a two-sided Fisher exact test. b Comparison of maternal and paternal age at birth between probands with dnSVs and those without dnSVs. The P-values were calculated using a one-sided t test. c Frequency of dnSVs classes. The box plots display the median (centre line) and interquartile range (25th to 75th percentile; boundaries of the box), with whiskers indicating minima and maxima. d Timing of duplications from maternal origin. Fraction of duplications according to the timing. The P-value was calculated using a two-tailed exact binomial test. e Frequency of complex dnSVs classes.
