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1. Overview

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1. About KVar

KVar (Korean Variant Archive) is a repository that collects, stores, and manages genomic variant data across a wide taxonomic range, including Homo sapiens and other organisms.

KVar accommodates two major variant classes:

  • Single nucleotide polymorphisms (SNPs) — collectively referring to small variants such as single-nucleotide variations and short insertions/deletions (indels) up to 50 base pairs (bp) in length.

  • Structural variants (SVs) — large-scale genomic variations greater than 50 bp, including deletions (DEL), duplications (DUP), insertions (INS), inversions (INV), translocations (BND), and copy number variants (CNV).

KVar functions as a component of the Korean BioData Station (K-BDS), ensuring national-scale variant data archiving and interoperability with international repositories (e.g., dbSNP, dbVar, EVA) through standardized metadata and accession systems. KVar exclusively accepts variant data generated by sequencing-based detection methods, such as next-generation sequencing (NGS) or long-read sequencing platforms, while data derived from hybridization-based technologies (e.g., microarrays or targeted capture assays) are not supported.

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2. Key features of KVar

  • Integrated SNP and SV management KVar collects and manages both SNP and SV data within a single repository, each with separate accession systems.

  • Support for non-human species Variant data from Homo sapiens and various non-human organisms are accepted and curated.

  • Study-based summary statistics Variant information is organized by study (cohort) and includes allele frequency, position, and variant type.

  • Genome browser visualization Users can explore where each variant is located within the genome through an interactive browser.

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3. Cite

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