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. 2012 Dec 7;91(6):1033–1040. doi: 10.1016/j.ajhg.2012.10.018

Figure 2.

Figure 2

Hotspots of NAHR-Mediated CNVs Are Enriched in Early S Phase, whereas NH-Mediated CNV Hotspots Are Enriched in Late S Phase

(A) Distribution of DNA replication timing for the entire genome (gray) and hotspot locations of NAHR (green)-, and NH (red)-mediated CNVs. All CNV locations of each type were hierarchically clustered with a distance cutoff of 5 Mb (for NAHR) or 1 Mb (NH), and hotspots were defined as clusters with at least five events.

(B) The average replication timing structure surrounding CNV hotspot locations (as in Figure 1B).

(C) The replication profile of chromosome 7, with the locations of hotspots of NAHR (green)- and NH (red)-mediated events shown.

(D) The average replication timing structure surrounding all CNV locations compared to random locations matched for GC content (within a 0.01% range). The association of NH events with DNA replication timing is not due to GC effects. In contrast, when considering GC content, NAHR events occur in later-replicating regions than expected for genomic regions with the same GC content (and not early-replicating regions as suggested when ignoring GC content).