Extended Data Fig. 5: SST1 array deletion on chromosome 14.
From: The formation and propagation of human Robertsonian chromosomes
Alignment of chromosome 14 contigs from 29 haplotypes, including 26 from the Human Pangenome Reference Consortium (HPRC) year 1 dataset and 3 from ROB cell lines (GM04890, GM03417, and GM03786, highlighted in bold). Each row represents a distinct haplotype aligned against the T2T-CHM13 reference chromosome 14 (bottom track). Gold bars indicate aligned regions, while gaps represent absent and unaligned sequences. The vertical black line marks the position of the SST1 array within the Pseudo-Homolog Region (PHR). The bottom track displays the CHM13 centromeric satellite annotation, with different colors representing various satellite families. Approximately 34.5% (10 out of 29) of the analyzed chromosome 14 haplotypes lack the SST1-containing PHR, including the non-ROB chromosome 14 in the GM03786 cell line. Haplotypes are clustered based on sequence similarity to better visualize the deletion pattern. The x-axis shows the genomic position in megabases (Mb).
