The central goal of human genetics is to understand the inherited basis of human variation
in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have …

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Recent discovery of the copy number variation (CNV) in normal individuals has widened our
understanding of genomic variation. However, most of the reported CNVs have been …

Recent years have witnessed a flurry of important technological and methodological
developments in the discovery and analysis of copy number variations (CNVs), which are …

Comprehensive descriptions of large insertion/deletion or segmental duplication
polymorphisms (SDs) in the human genome have recently been generated. These …

Recent reports indicate that copy number variations (CNVs) within the human genome
contribute to nucleotide diversity to a larger extent than single nucleotide polymorphisms …

INTRODUCTION Most studies of human genetic variation have focused on single-nucleotide
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …

Copy number variation is a dominant contributor to genomic variation and may frequently
underlie an individual's variable susceptibilities to disease. Here we question our previous …

Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …

The association of DNA copy-number variation (CNV) with specific gene function and
human disease has been long known, but the wide scope and prevalence of this form of …