Figure 4
From: Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation
Interplay between duplication status and SNP allele. (a) Of 496 interrogated duplication loci, we observed 6 cases (1.2%) with both AA and BB chromosomes, and none with AB chromosomes. When only one SNP allele was unambiguously duplicated, 92.5% of the time it was the major allele in our sample set. (b). An example of a Caucasian trio and a Japanese individual harboring different SNP alleles in the duplicon.