Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion.

This is a dataset related to the study of human chromosome 22q11.2 region. This dataset contains FASTA sequences extracted from the region of interest (ROI) 18-23 Mbp corresponding to T2T-CHM13 reference. There are FASTA sequences for 135 diverse human haplotypes and 12 haplotypes of nonhuman primates. Lastly, there are 466 diverse human haplotypes (233 samples) from HGSVC and HPRC2 (release 2) extracted from the ROI. In addition , there are also FASTA sequences for four common repeat units (25, 28, 41, 105, and 120 kbp in size) defined within the 22q11.2 region. Last, there is Strand-seq pool data for 279 1KG (1000 Genomes Project) samples, used for inversion genotyping at 22q11.2, released as both UCSC Genome Browser formatted BED files and BAM files. All assemblies, except of HPRC2, were previously published as part of Human Pangenome Reference Consortium (HPRC1 - release 1) (Liao et al. 2023), Human Genome Structural Variation Consortium (HGSVC) (G. A. Logsdon et al. 2025), or recent study of ape genomes (Yoo et al. 2025). See README file for more details.