Global patterns of copy number variations (CNVs) in chromosomes are required to understand the dynamics of genome organization and complexity. For this study, analysis was performed using the Affymetrix Genome-Wide Human SNP Array 6.0 chip and CytoScan High-Density arrays. We identified a total of 44 109 CNVs from 1715 genomes with a mean of 25 CNVs in an individual, which established the first drafts of population-specific CNV maps providing a rationale for prioritizing chromosomal regions. About 19 905 ancient CNVs were identified across all chromosomes and populations at varying frequencies. CNV count, and sometimes CNV size, contributed to the bulk CNV size of the chromosome. Population specific lengthening and shortening of chromosomal length was observed. Sex bias for CNV presence was largely dependent on ethnicity. Lower CNV inheritance rate was observed for India, compared to YRI and CEU. A total of 33 candidate CNV hotspots from 5382 copy number (CN) variable region (CNVR) clusters were identified. Population specific CNV distribution patterns in p and q arms disturbed the assumption that CNV counts in the p arm are less common compared to long arms, and the CNV occurrence and distribution in chromosomes is length independent. This study unraveled the force of independent evolutionary dynamics on genome organization and complexity across chromosomes and populations.

中文翻译：

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人类基因组中大拷贝数变异的整体模式揭示了染色体组织的复杂性。

需要了解染色体中拷贝数变异（CNV）的全局模式才能了解基因组组织和复杂性的动态。对于这项研究，使用Affymetrix Genome-Wide Human SNP Array 6.0芯片和CytoScan高密度阵列进行了分析。我们从一个人的1715个基因组中识别出总共44 109个CNV，平均每个人中有25个CNV，这建立了种群特异性CNV图的初稿，为确定染色体区域的优先顺序提供了依据。在所有染色体和种群中，以不同的频率鉴定出约19905个古代CNV。CNV计数，有时甚至是CNV大小，导致染色体的整体CNV大小。观察到群体特异性延长和缩短了染色体长度。CNV存在的性别偏见在很大程度上取决于种族。与YRI和CEU相比，印度的CNV遗传率较低。从5382个拷贝数（CN）可变区（CNVR）簇中总共鉴定出33个候选CNV热点。p和q臂中特定于种群的CNV分布模式干扰了这样一个假设，即与长臂相比，p臂中CNV计数不那么常见，并且染色体中CNV的发生和分布与长度无关。这项研究揭示了独立​​进化动力学对基因组组织和跨染色体和群体复杂性的作用。p和q臂中特定于种群的CNV分布模式干扰了这样一个假设，即与长臂相比，p臂中CNV计数不那么常见，并且染色体中CNV的发生和分布与长度无关。这项研究揭示了独立​​进化动力学对基因组组织和跨染色体和群体复杂性的作用。p和q臂中特定于种群的CNV分布模式干扰了这样一个假设，即与长臂相比，p臂中CNV计数不那么常见，并且染色体中CNV的发生和分布与长度无关。这项研究揭示了独立​​进化动力学对基因组组织和跨染色体和群体复杂性的作用。