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Figure 2 | Human Genomics

Figure 2

From: A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture

Figure 2

Results from a genome-wide survey for a complex type of higher-order chromosomal structure which may mediate genomic variation. Distribution of all 861 palindromic segmental duplications (PSDs) (blue lines) and 705 SDs in tandem orientation (TSDs) (red lines) that met our criteria of a minimum length of 10 kb and maximum spacing of 8 Mb are displayed on the 'fugued [1] scale for each chromosome. Red boxes indicate locations of centromeres, removed during the fuguisation process. Green bars represent the inversion regions from chromosomes 8p23 and 4p16, as well as related regions from chromosomes 11q13 and 3q21; detailed results for these regions are shown in Figure 3. Chromosomal locations (labelled WBS, AS, SoS and AZFc) associated with genomic disorders are represented as black bars: Williams-Beuren-syndrome (WBS) on chromosome 7q11, Sotos syndrome (SoS) on chromosome 5q35, Angelman syndrome (AS) on chromosome 15q11-q13 and the azoospermia factor c (AZFc) region on the Y chromosome; each of these regions is detailed in Figure 4. Additional hotspots for a number of known genomic disorders are labelled as follows: SMA for spinal muscular atrophy, PWS for Prader-Willi syndrome, CMT1A for Charcot-Marie-Tooth disease type 1A, SMS for Smith-Magenis syndrome and DGS/VCF for DiGeorge/velocardiofacial syndrome.

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