Figure 1

Counts of CNVs identified with the different methods. Copy number variants (CNVs) were detected with four different algorithms (see legend) using data generated by Affymetrix 500K SNP arrays for the Cohorte Lausanne (n ≈ 5600). Adjacent SNPs with similar Copy Number profiles were merged into CNV regions using two different approaches: one based on principal component analysis (PCA, bottom panel) and a more simple approach that only merges SNPs with identical profiles (top panel). Copy number polymorphisms (CNPs, i.e. CNVs with population frequency above 1%) are shown on the left. Copy number variant regions (CNVRs, i.e. CNVs with population frequency below 1% but seen for at least five individuals) are shown on the right. In each plot, CNV counts are segregated according to their size.