Fig. 2

mCNVs vary in positional frequency and length. a Cumulative distribution of mCNV duplication size on the three commonly aneuploid autosomes—as well as their aggregate (“chr13/18/21”)—expressed as the percentage of the chromosome the mCNV spans (N = 87,255 samples). b, c The size distribution of mCNVs on chromosome 21 for duplications (b) and deletions (c). d For the mappable regions of chromosome 21, lines indicate observed mCNV positions and lengths (1 Mb scale bar indicated) for duplications (top) and deletions (bottom)