Copy number variants (CNVs) play an important role in human disease and population diversity. Advancements in technology have allowed for the analysis of CNVs in thousands of individuals with disease in addition to thousands of controls. These studies have identified rare CNVs associated with neuropsychiatric diseases such as autism, schizophrenia, and intellectual disability. In addition, copy number polymorphisms (CNPs) are present at higher frequencies in the population, show high diversity in copy number, sequence, and structure, and have been associated with multiple phenotypes, primarily related to immune or environmental response. However, the landscape of copy number variation still remains largely unexplored, especially for smaller CNVs and those embedded within complex regions of the human genome. An integrated approach including characterization of single nucleotide variants and CNVs in a large number of individuals with disease and normal genomes holds the promise of thoroughly elucidating the genetic basis of human disease and diversity.

中文翻译：

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人类拷贝数变异和复杂遗传疾病。

拷贝数变异（CNV）在人类疾病和人口多样性中发挥着重要作用。除了数千个对照之外，技术的进步已经允许对数千名患病个体的 CNV 进行分析。这些研究已经确定了与自闭症、精神分裂症和智力障碍等神经精神疾病相关的罕见 CNV。此外，拷贝数多态性 (CNP) 在人群中的频率较高，在拷贝数、序列和结构方面表现出高度多样性，并且与多种表型相关，主要与免疫或环境反应有关。然而，拷贝数变异的前景仍然很大程度上未被探索，特别是对于较小的 CNV 和嵌入人类基因组复杂区域的那些。