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CNV is the variation in DNA segments that should normally be two copies due to gain or loss. CNV can be detected by microarray or multiplex ligation-dependent probe amplification. It is not yet known which CNV is pathogenic or is only polymorphism. However, a comparison of genetic data with clinical histories will help in understanding the disease-causing potential of CNV and its association with diseases.

A Potential Method to Help Predict Genetic Diseases and Arrange Healthcare: Copy Number Variations Analysis