… ranging from 1 kilobase (kb) to 5 megabase (Mb) comprised mainly of copy number
variation (CNV in the form of large-scale insertions and deletions), as well as inversions and …

… a large set of reference samples. GIM, which has been used previously for identification of
copy number changes … Subsequent to GIM, SW-ARRAY identifies copy number changes using …

… of women reaching the highest educational levels—levels 5 through 7. Only 12 women (12.9%)
in the 250 kb ≤ deletion <500 kb group attained these highest educational levels (OR, …

… We did not observe a high incidence of trisomy 12, as … used high-resolution aCGH to identify
smaller regions of variation. We analyzed 25 of the hiPSC lines at varying passage numbers …

… In this perspective, we focus our analysis on the large (>1 kb) variants identified in recent
genome-wide surveys. Although still incomplete, the available data allow us to assess the …

… CNV burden analyses have shown an increased burden of large, rare CNVs in SZ: we
reported a 2.5% higher rate of CNVs larger than 500 kb in SZ compared with controls. Using the …

… In the context of autoimmune disease, it is also of interest that high copy number at CCL3L1
has … Similarly, both high and low beta-defensin copy numbers have been associated with …

… Different species, populations and individuals vary considerably in the copy number of …
of spontaneous copy number variation (CNV) in the laboratory mouse. We used high-resolution …

… DNA copy number variations (CNVs) are an important component of genetic variation, … The
advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization …

… analysis by NGS has the following potential advantages compared with array-based
techniques: (i) estimation of integer copy numbers from NGS data is more accurate for large …