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. Author manuscript; available in PMC: 2020 Mar 7.
Published in final edited form as: Cell. 2019 Feb 28;176(6):1310–1324.e10. doi: 10.1016/j.cell.2019.01.045

Figure 3-. Regional B-allele frequency and genotype information allows SV phasing.

Figure 3-

The phasing data for selected individuals carrying duplications is shown; red dots represent maternal and blue dots paternal informative SNPs (black dots are non-informative). The x-axis represents the coordinates (hg19 genomic position) along the 17p11.2 capture region, and the y-axis is the B-allele frequency. A) BAB2811 carries a duplication on the maternal haplotype; we phased 11 SNVs in cis with this SV, including one outside of the duplicated region. B) BAB3810 carries a duplication on the maternal haplotype; one SNV was in cis with this SV junction. C) BAB8123 carries a duplication on the paternal haplotype; two SNVs were in cis with this SV. D) BAB2986 carries a duplication on the maternal haplotype; two SNVs were in cis with this SV. See Table S3 for SNV phasing data for these probands indicating that SV and SNV occurred de novo in cis with the SV (Table S3).