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. 2018 Apr 30;12(4):e0006429. doi: 10.1371/journal.pntd.0006429

Fig 3. Genome-wide CNV analysis identifies a homozygous deletion in the second linkage region on chromosome 8.

Fig 3

CNV identification is based principally on quantitative analysis of the intensity of the hybridization signal of nucleotide probes (the logR ratio, LRR) throughout the genome, making it possible to infer that the copy number (CN) is normal, increased or decreased in the patient’s genome, at the location of the probe. Each blue dot represents one probe in this region of chromosome 8. Red dots represent the CNV segment identified in this family by PennCNV (from probe CN_1273661 to probe CN_1273690, at position 12,616,022 to 12,624,550 in GRCh38 coordinates).