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. 2010 Dec 16;5(12):e15246. doi: 10.1371/journal.pone.0015246

Figure 2. Detection of large-scale genomic variants with CNAM, PennCNV and Birdseye and the Affymetrix SNP Array 6.0.

Figure 2

Schematic representation of the three samples with large-scale genomic aberrations used for gross validation of methods. Results of the different CNV-Finding algorithms are shown on a chromosome wide level, black and colored bars indicate CNVs. For B and C a more detailed view of the large-scale aberration regions (red boxes) is given. Orange bars for the Birdseye algorithm in A and C represent CNVs with opposite direction of effect (gain vs. loss). A. Trisomy 21. (Due to repetitive and no known coding sequences on the p-arm of chromosome 21, the Affymetrix GeneChip 6.0 lacks markers in this genomic region. Therefore changes in copy number in this region are not detectable.) B. Well defined familial 14.5 Mb deletion 46,XX,del(13)(q21.1q21.33) with sequenced breakpoints (orange bar) [32]. C. Partial terminal duplication of the short arm of chromosome 16 and partial terminal deletion of the short arm of the X-chromosome. Conventional karyotyping confirmed an unbalanced translocation 46,X,der(X)t(X;16)(p21.1;p12.1).