As experimental validation of all the CNV events detected by QuantiSNP would be far too time consuming and costly to perform, we attempted to verify these events instead using the database for genomic variants. To perform a reliable comparison and to avoid counting an event multiple times we consolidated the additional unvalidated events, 42 deletions and 56 duplications with at least two SNPs to a non-redundant set of 68 loci (QS copy number summary custom track are available at http://www.well.ox.ac.uk/QuantiSNP) and then compared our findings to the unique loci in the database. Despite the low coverage of the platform(s) (Supplementary Table S3) and the small sample size for this kind of study, many novel events had a partial or complete overlap with events in the database. The different levels of agreement for the boundaries of the CNVs can be due to real sample-related differences and/or the genome coverage of the platform used. In summary, 37/68 loci were mapped to the database and among those 20 were nested within database loci (Supplementary Table S4A). When we analysed the additional loci found
