LD at a continuous site of CNP variation. A, Multiple tracks (top to bottom) depicting the distribution of R2 for SNPs within a 200-kb region flanking the CNP variant, the ratio of observed:expected heterozygosity (HETobs/HETexp), the location of SNP assays (triangles), the position of segmental duplications (Seg Dups) (gray bars, with pairwise relationships indicated by joining lines), and the position of the BAC array CGH probe (dark gray box). The best available SNP, rs1208143, was selected on the basis of a permutation test of all SNPs within an interval encompassing 200 kb proximal and distal of the BAC coordinates. Note the reduced SNP density in the BAC interval, along with increased heterozygosity, likely because of the presence of segmental duplications.20 B, The number of SNP assays per kilobase, plotted with respect to the percentage of similarity of segmental duplications. The trend clearly indicates a reduction in the number of SNP assays, with increasing homology in duplicated space. This trend implies that the regions most prone to complex rearrangement are less likely to have dense SNP coverage and thus are less apt to associate with a nearby SNP. In addition, methods for the identification of CNPs based on the analysis of SNP data have reduced power to detect structural variations in regions of segmental duplication.6,7,14