Fig. 1.

The graph corresponding to a CNV region (CNP1180—Redon et al., 2006). This graph has 12 vertices (consecutive markers in the genome, the start marker is rs7186710 and continues in a clock-wise direction) and edges between the vertices, some occuring multiple times. Each vertex has a degree, defined as the number of edges incident to the vertex (i.e. the number of segments that have that vertex as an extremity). The degree is shown inside the circle corresponding to the vertex/marker. Some of the vertices have very high degree (e.g. rs7196505 has degree 35), signifying multiple segments in different individuals that have that marker as an extremity. Note that all markers that sit physically in the region delimited by the connected component are automatically included in the CNV region, regardless of whether they are connected (by an edge) to the graph or not (e.g. marker rs3853178).