To expound the progress in study of the copy number variation in human genome and the research and development of new drug.Based on the literature in recent years the copy number variation,the map of copy number variation related to disease and research and development of new drugs in major disease are reviewed.The copy number variation(CNVs) or copy number polymorphism(CNPs) in the human genome are a new development in the studies of gene variation.The first comprehensive map of copy number variation in the human genome provides an important resource for studies of genome structure and human disease,and it will open up board prospects for carrying out the research and development of new drugs.