Fig. 1

The diverse landscape of SV in participants with ASD and other developmental disorders. We sequenced the genomes of 689 participants with ASD and other developmental disorders. a Physical coverage and (b) median insert size of liWGS libraries. c Count and distributions of large SV detected by liWGS (Additional file 1). d Distribution of SVs per participant by SV class. e Density plots of SV sizes by class. Characteristic Alu and L1 peaks are absent due to the resolution of liWGS (> ~ 5 kb) being larger than most mobile element insertions. f Cumulative distributions of SV frequencies by class. Singletons (single observation among all 686 samples) are marked with an arrow. Rare SVs are defined as those with variant frequency (VF) < 1%