The term of copy-number mutations (CNMs) is used, from the standpoint pathological relevance, in distinction to the neutral term 'copy-number variation' CNV, in accordance with previous studies.
As Alus are the most successful active TEs in the human genome in terms of copy number, and occupy two-thirds of the SINE elements, this prompted us to contemplate whether Alus contributed the most to the correlation between SINE density and CI frequency in intra-domains.
We also looked for differences in terms of copy number.
Due to their specific dynamics during genome evolution, TE families may differ considerably in terms of copy number, sequence divergence and insertion/deletion patterns.
Although L1 elements contribute the most to the genome in terms of total size, Alu elements are the most successful mobile element family in terms of copy number, reaching a copy number of ∼1.2 million in the human genome [6].
We suggest that this large number of clusters reflects the high level of diversity within TE families in terms of copy divergence and nesting patterns, as assessed by clustering algorithms.
The Slfn gene families of mouse and human, like other IFN-responsive families such as the HIN200s [22], are very different in terms of copy number and genomic organization [7].
We have found 1459 hAT-related elements in the grapevine genome, which makes hATs as the most prevalent "cut-and-paste" transposon family in grapevine in terms of copy number (Table 1).
