Validation of CNVs of biological interest. CNV was quantitatively tested by Southern blotting. The dogs included are the aCGH discovery set and reference, plus one Rottweiler and one Golden Retriever (asterisks). All samples were equilibrated with a known two-copy gene (VEGFA) and compared to the aCGH reference dog (in yellow). The bands corresponding to the survey dog in which a CNV was discovered are boxed—red for discovery gain, pink for intermediate gain, and blue for loss. The CNVs are labeled according to the gene of interest (other genes spanning the same variant are provided in Table 2). The size of HindIII fragments detected are provided in base pairs. Note that EWSR1 CNV gain is also present in the Golden Retriever, which was not one of the dogs in the discovery set.
