In conclusion, this study shows that the digital array provides a new and robust technology to study geneand sequence-specific CNV and is able to detect gene copy numbers with great accuracy. Digital arrays provide a much greater discrimination power than quantitative PCR. CNV studies on the digital array are easy to perform, fast and the data obtained is easy to interpret. Furthermore, the platform is very flexible and can be tailored to any gene/sequence. It can also serve as an independent measure to verify results from the whole-genome scans using array technologies. The digital array is an excellent CNV platform for both basic research and clinical investigation.