Defenition

Structural variations (SV) are Genomic rearrangements that effect more than 1 Kb

What we define as SVs

• Indel
  • Short insertion or deletion events < 50 bp
• Structural variations
  • Large insertion
  • TE insertion
  • Inversion
• Copy number variations
  • Large deletion
  • Interspersed duplication
  • Tandem duplication

Why SV Discovery

• Finding disease causal genes
• Trace evolutionary genome history
• Analyze the mechanisms of SVs occurrence
• Understand Repetitive Element spreading

disease models

• large variants(hundred kilobase) that are individually rare in population (< 1%) but collectively account for a significant fraction of disease
• multicopy gene families that are commonly copy number variable and contribute to disease susceptibility

Strategies of discovering SVs

• Read-pair technologies