Background: Structural variants (SVs) - insertions, deletions, inversions and duplications larger than 50bp - are an important source of human genetic diversity and are increasingly being implicated in human disease. Many SVs can be found in repetitive, structurally complex regions that short-read sequencing approaches cannot resolve. Additionally, their allele frequencies and profiles differ between populations, so studying non-diverse cohorts risks missing population-specific SVs. The Human Genome Structural Variation Consortium (HGSVC) is addressing these gaps by generating near-complete haplotype assemblies for globally diverse samples from the 1000 Genomes Project. The latest HGSVC release, HGSVC3, comprises 65 high-quality haplotype assemblies for which complex repeat regions, including centromeres and segmental duplications, are resolved, providing the most comprehensive catalogue of fully resolved haplotype-specific human variants to date. The International Genome Sample Resource (IGSR) disseminates HGSVC3 data, enabling its discovery via a user-friendly portal (internationalgenome.org/data-portal). Researchers can filter by sample, population or data type and seamlessly access and download the underlying sequence, alignment and variant files. Ensembl supports interpretation of these data through in-browser visualisation of HGSVC3 structural variants alongside genes, transcripts, regulatory features and comparative annotations. Additionally, the Ensembl Variant Effect Predictor enables SV priorisation by annotation of predicted molecular consequences.
Conclusions: As such, HGSVC3 data and Ensembl tools, provide highly useful resources for SV exploration. Here we will showcase the tools and breadth of data available and how it can be discovered, accessed and visualised.