… GAP1 CNVs are generated at a high rate and can be variable in both size and copy number.
The extent of CNV diversity is surprising given that the majority of CNVs are formed through …

… The higher percentage of apparent variability in our inclusive map could be explained by
the fact that more samples from a wider range of ethnic backgrounds were included. Moreover, …

… in these representative individuals, including CNVs and balanced rearrangements (eg,
inversions), as well as lead to rapid demarcation of boundaries of specific copy number …

… To further increase the accuracy of absolute copy number determinations, especially at
high copy number, we borrowed information from the population allele frequencies of the …

… In the children, eight of nine loci validated as copy number changes. The smallest event, a
33-… the true-positive rate, we were able to validate predicted copy number changes for eight of …

… variation in the human genome exists in different forms. Recent studies have shown that
variations exist in the human genome at various levels: … , large-scale copy-number variations (…

… Based on the out-of-Africa theory ( 33 ) of modern human origin, higher levels of genetic
variation should exist in the more ancient African populations and less diversity in the younger, …

… Support for the involvement of large copy number variants in the pathogenesis of … PennCNV:
an integrated hidden Markov model designed for high-resolution copy number variation …

… copy number changes was to achieve a low false-positive call rate (<5%) while maximizing
the number … To estimate the false-positive rate, we calculated the number of calls made in the …

… The large-scale (typically > 100 kb) copy number variation analyzed here appears to be
associated with about 10 to 25% as many gene expression phenotypes as captured by ∼…