Copy number variants (CNVs), defined as genome sequences of ≥50 bp that differ in copy number from that in a reference genome, are a common form of structural variation. Germline CNVs account for some of the missing heritability that single nucleotide polymorphisms could not account for. Recent technological advances have had a huge impact on CNV research. Microarray technology enables relatively low-cost, high-throughput, genome-wide measurements, and short-read sequencing technology enables the detection of short CNVs that cannot be detected by microarrays. As a result, large-scale genetic studies have been able to identify a variety of common and rare germline CNVs and their associations with diseases. Rare germline CNVs have been reported to be associated with neuropsychiatric disorders. In this review, we focused on germline CNVs and briefly described their functional characteristics, formation mechanisms, detection methods, related databases, and the latest findings. Finally, we introduced recent large-scale genetic studies to assess associations of CNVs with diseases, especially psychiatric disorders, and discussed the use of CNV-based animal models to investigate the molecular and cellular mechanisms underlying these disorders. The development and implementation of improved detection methods, such as long-read single-molecule sequencing, are expected to provide additional insight into the molecular basis of psychiatric disorders and other complex diseases, thus facilitating basic and clinical research on CNVs.

拷贝数变异（CNV）定义为≥50 bp的基因组序列，其拷贝数与参考基因组的拷贝数不同，是结构变异的一种常见形式。生殖细胞CNV造成了单核苷酸多态性无法弥补的某些遗传力缺失。最近的技术进步对CNV研究产生了巨大影响。微阵列技术可实现相对低成本，高通量的全基因组测量，而短读测序技术可检测出微阵列无法检测到的短CNV。结果，大规模的遗传研究已经能够鉴定出各种常见和罕见的种系CNV及其与疾病的关联。据报道，罕见的种系CNV与神经精神疾病有关。在这篇评论中 我们将重点放在种系CNV上，并简要介绍了它们的功能特性，形成机制，检测方法，相关数据库以及最新发现。最后，我们介绍了最近的大规模遗传研究，以评估CNV与疾病（尤其是精神疾病）的关联，并讨论了基于CNV的动物模型对这些疾病背后的分子和细胞机制的研究。改进的检测方法的开发和实施（例如长读单分子测序）有望为精神病和其他复杂疾病的分子基础提供更多的见识，从而促进CNV的基础和临床研究。最后，我们介绍了最近的大规模遗传研究，以评估CNV与疾病（尤其是精神疾病）的关联，并讨论了基于CNV的动物模型对这些疾病背后的分子和细胞机制的研究。改进的检测方法的开发和实施（例如长读单分子测序）有望为精神病和其他复杂疾病的分子基础提供更多的见识，从而促进CNV的基础和临床研究。最后，我们介绍了最近的大规模遗传研究，以评估CNV与疾病（尤其是精神疾病）的关联，并讨论了基于CNV的动物模型对这些疾病背后的分子和细胞机制的研究。改进的检测方法的开发和实施，例如长读单分子测序，有望为精神病和其他复杂疾病的分子基础提供更多的见识，从而促进CNV的基础和临床研究。