Extended Data Fig. 6: Germline CNVs at 15q26.3.
From: Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
a, Read depth profile plot of WGS samples in the terminal 700 kb of chr15q. Three individuals in one family carry an approximately 70-kb deletion at 15q26.3, and a fourth carries the same deletion along with an approximately 290-kb duplication (probably on the same haplotype, based on population frequencies of these events; see Extended Data Fig. 7). These four individuals (highlighted in blue) segregate with the rs182643535:T allele in the WGS cohort. Inset: the parental carrier in the family, individual 10921, has detectable mosaicism in two distinct 15q CNN-LOH subclones (one starting at 41.64 Mb with 4.6% cell fraction, the other starting at 71.64 Mb with an additional 2.0% cell fraction). b, Expanded read depth profile plot, with deletion-only individuals highlighted in blue and the del + dup individual highlighted in green. Breakpoint analysis indicates that the deletion spans chr15:102151467–102222161 and contains a 1,139-bp mid-segment (chr15:102164897–102166035) that is retained in inverted orientation. The duplication spans chr15:102026997–102314016.
