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152Oder: "A DNA sequence, 1000 nucleotides (or synonymously base pairs) in length orlonger, that is present a variable number of times as copies in a genome relative to areference genome.” 263Zwei Aspekte werden von D'haene et al. (2010, p. 262) zum Thema CNVhervorgehoben:"Copy number changes under the form of deletions and duplications are known to be involved innumerous human genetic disorders. Moreover, each individual's genome embodies several copy numberpolymorphisms of various sizes which are thought to contribute to normal phenotypic variation andsusceptibility to multifactorial disease,” 264Also: copy number changes sind relevant für "normal phenotypic variation” und"numerous genetic disorders”."Normal phenotypic variation” meint zunächst einmal das, was an anderer Stelleals die "Unendlichkeit im Kleinen” 265 bezeichnet wurde (oder: "…due to almostinvisible residual effects of changes in redundant sequences and/or of furtherchromosome rearrangements, the corresponding saturation curve isasymptotically approaching its limit for the micro-quantitative part ofvariation” 266 ) und "numerous genetic disorders” braucht nach den vielen obengegebenen Beispielen jetzt wohl nicht noch einmal näher erklärt werden.Damit ist die Synthetische Evolutionstheorie (= Neodarwinismus), die sämtlicheVeränderungen auch auf molekulargenetischer Ebene von der Selektionkontrolliert und dirigiert wissen wollte 267 , in zwei bedeutenden Punkten eindeutigwiderlegt: (1) Die Anzahl der SNPs (single nucleotide polymorphisms) mit mehrals 300.000 (neueste Daten gehen sogar in die Millionen 268 ) allein beim Menschen263 http://en.wiktionary.org/wiki/copy-number_variant (Zugriff Anfang November 2012);Mills et al. (2011): Mapping copy number variation by population scale genome sequencing. Nature 470: 59-65. "Our map encompassed22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. […] Altogether, the release set comprised 22,025deletions, 501 tandem duplications, 5,371 MEIs, and 128 non-reference insertions (Table 1, Supplementary Table 7). With our gold standard weestimated an overall sensitivity of deletion discovery of 82% in the trios, and 69% in low-coverage sequence (Fig. 2B) using a 1 bp overlapcriterion.” (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077050/#SD7).Sudmant et al. (2010): Diversity of Human Copy Number Variation and Multicopy Genes. Science 330: 641-646. "We identified 952 largeCNVs greater than 50 kbp across 159 individuals (9). As expected, events of increasing size occur with progressively lower frequency. We notedthat the majority of large events (55%, 522 out of 952) overlapped segmental duplications. Out of all events, 47% (452 of 952) were common,being observed in more than eight individuals (>5% of genomes). Association with segmental duplications also strongly influenced CNVfrequency. Events entirely outside segmental duplications were generally rare, with 71% (390 of 546) detected in three or fewer individuals (