There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human phenotypic variation. Our current knowledge of the extent of human structural variation shows that the human genome is a highly dynamic structure that shows significant large-scale variation from the currently published genome reference sequence.

中文翻译：

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人类基因组的结构变异。

人们日益认识到，人类基因组包含大量的结构重排，例如插入，缺失，倒位和大串联重复。最近的研究已将正常人群中约5％的人类基因组定义为结构变异，涉及800多个独立基因。我们提出了迄今为止在人类中发现的各种结构重排的详细综述，特别是它们对人类表型变异的影响。我们对人类结构变异程度的当前了解表明，人类基因组是一种高度动态的结构，与当前发布的基因组参考序列相比，显示出显着的大规模变异。