中文摘要：

基因组拷贝数变异（copynumber variations，CNVs）是指与基因组参考序列相比，基因组中≥1kb的DNA片段插入、缺失和／或扩增，及其互相组合衍生出的复杂变异．由于其具有分布范围广、可遗传、相对稳定和高度异质性等特点，目前认为，CNVs是一种新的可以作为疾病易感标志的基因组DNA多态性，其变异引起的基因剂量改变可以导致表型改变．最近，一种基于CNVs的新的疾病易感基因鉴定策略——CNV全基因组关联分析开始出现，这一策略和传统的基于单核苷酸多态性的关联分析具有互补性，通过认识基因组结构变异可以认识复杂疾病的分子机制和遗传基础．

英文摘要：

Copy number variations （CNVs） refer as a DNA segment that is 1 kb or larger and is presented at a variable copy number in comparison with a reference genome. Classes of CNVs include insertions, deletions, duplications and their complex combinations. Because they widely distributed in the genome with some important characteristics, such as heritable, relative stable and heterogeneity, CNVs are considered as novel genomic polymorphism markers. And the alteration of gene dosage which resulted from CNVs could change phenotype, so a novel CNV genome-wide association analysis （CNV-GWAS） strategy appeared recently and began to used for identifying susceptible genes of complex diseases. It was approved that it could complement the tranditional genome-wide association studies based on single nucleotide polymorphisms. Therefore, genomic structure variances are favorable for revealing the molecular mechanisms and genetic foundation of complex diseases.