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. 2013 Jan 10;92(1):28–40. doi: 10.1016/j.ajhg.2012.11.013

Figure 2.

Figure 2

PSV and Breakpoint Analysis at the FCGR Locus

Proximal and distal regions of the reference sequence that were aligned to identify candidate PSVs are indicated below the FCGR gene loci. A region of ∼1.5 kb in the centre of the FCGR2 gene loci is found in all three paralogs (2A-2C-2B paralogous region). The locations of candidate PSVs, SNPs, and PSVs remaining after removal of polymorphic PSVs are shown. Nonpolymorphic PSVs are absent in a 24.5 kb interval starting upstream of FCGR2C/FCGR2B and ending in intron five of FCGR2C/FCGR2B. The blow-ups show the SNPs and PSVs flanking the breakpoint region. The 5′ border is defined by a 449 indel PSV and three single nucleotide PSVs while the 3′ border is defined by a combination of three single nucleotides with the combination CCT identifying the FCGR2C locus and the combination TCT identifying the FCGR2B locus.