Fig. 1

Size and nature of gold standard CNVs from sample NA12878. a. Histogram showing size distribution of NA12878 gold standard CNVs. Bin sizes change by a factor of ten across panels. Peaks in the size range of Alu elements, in the 301–400 bp bin, and in the size range of LINE1 elements, in the 5001–6000 bp bin, are indicated by arrows. b. Distribution of total numbers of gold standard deletions and duplications by size. It can reasonably be expected that most CNVs smaller than 1 kb in size are not detectable by the arrays in this study