The individual and global impact of copy number variants on complex human traits.

Supplementary data for the manuscript "The individual and global impact of copy number variants on complex human traits" by Auwerx et al. 2022, in a compressed format: CNV frequency data: "SD1_Auwerx_2022_CNV_Frequency_UKBB.txt.zip" and "SD2_Auwerx_2022_CNV_Frequency_EstBB.txt.zip" contain probe-level CNV frequency data for the UK Biobank and Estonian Biobank, respectively. Columns indicate probe identifier (ID), genomic position (CHR, POS), number of CNV (NumCNV), duplication (NumDup), and deletion (NumDel) carriers, as well as the number of copy neutral individuals (NumNeutral) for each probe. These were used to calculate CNV (FreqCNV), duplication (FreqDup), and deletion (FreqDel) frequencies as described in the methods of the associated manuscript. CNV-GWAS summary statistics data: "SD3_Auwerx_2022_CNV_GWAS_SummaryStats_Mirror.txt.zip", "SD4_Auwerx_2022_CNV_GWAS_SummaryStats_DuplicationOnly.txt.zip", and "SD5_Auwerx_2022_CNV_GWAS_SummaryStats_DeletionOnly.txt.zip" contain the grouped summary statistics for the CNV-GWAS performed according to a mirror, duplication-only, and deletion-only association model (see methods of the associated manuscript), respectively, performed for 57 continuous traits in the UK Biobank. Files follow the PLINK v2 output format from the --glm function. Column indicates the phenotype (PHENO), probe genomic position (CHR, POS), rs number (ID), alleles (standardized to A1 = T), sample size (OBS_CT), effect size in standard deviations (BETA), the standard error (SE) and 95% confidence interval (L95, U95) of the estimated BETA, the test statistic (T_STAT), p-value (P), and possible error code (ERRCODE) for each performed linear regression .本数据集为Auwerx等人2022年发表的手稿《拷贝数变异对人类复杂性状的个体及全局影响》的补充数据，采用压缩格式存储： CNV频率数据： 文件"SD1_Auwerx_2022_CNV_Frequency_UKBB.txt.zip"与"SD2_Auwerx_2022_CNV_Frequency_EstBB.txt.zip"分别包含英国生物库（UK Biobank）与爱沙尼亚生物库（Estonian Biobank）的探针级拷贝数变异（CNV, Copy Number Variant）频率数据。各列依次对应探针标识符（ID）、基因组位置（CHR、POS）、拷贝数变异携带者总数（NumCNV）、重复变异携带者数（NumDup）、缺失变异携带者数（NumDel），以及各探针的拷贝数中性个体数（NumNeutral）。上述数据用于按照关联手稿的方法计算拷贝数变异频率（FreqCNV）、重复变异频率（FreqDup）与缺失变异频率（FreqDel）。 CNV全基因组关联分析汇总统计数据： 文件"SD3_Auwerx_2022_CNV_GWAS_SummaryStats_Mirror.txt.zip"、"SD4_Auwerx_2022_CNV_GWAS_SummaryStats_DuplicationOnly.txt.zip"与"SD5_Auwerx_2022_CNV_GWAS_SummaryStats_DeletionOnly.txt.zip"分别包含针对英国生物库中57个连续性状，按照镜像关联模型、仅重复变异关联模型、仅缺失变异关联模型开展的CNV全基因组关联分析（CNV-GWAS）的分组汇总统计数据（详见关联手稿方法部分）。上述文件遵循PLINK v2的--glm函数输出格式，各列依次对应表型（PHENO）、探针基因组位置（CHR、POS）、rs编号（ID）、等位基因（已标准化为A1=T）、样本量（OBS_CT）、以标准差计量的效应量（BETA）、效应量估计值的标准误（SE）与95%置信区间（L95、U95）、检验统计量（T_STAT）、p值（P），以及各线性回归分析的可能错误代码（ERRCODE）。