Various genome variation and related measures

Genome variation is divided into Base Variation & Structural variation.


Base variation: variation under 1,000 base pair.
Structural variation: variation over 1,000 base pair.



- The type of base variation
Single Nucleotide Polymorphism (SNP)
Insertion and Deletion (InDel)

- The type of structural variation.
Copy Number Variation (CNV)
Segmental duplication
Translocation
Inversion




Various genome variation and related measures

Single nucleotide
Substitution, point mutation
Insertion-deletions (InDel)
SNPs

2bp ~ 1,000 bp
Microsatellites, minisatellites (indel)
Inversion
Nucleotide repeats
VNTRs

1kb to submicroscopic
Copy number variants(CNVs)
Segmental duplications
Inversions, translocations
CNV regions(CNVRs)
Microdeletions, micro duplications.

Microscopic to subchromosomal
Semgental aneusomy
Chromosomal deletions, losses, inserstions, gains, inversions
Intrachromosomal transloaations
Heteromorphisms
Fragile sites

Whole chromosomal to whole genome
Interchromosomal translocations
Ring chromosomes, isochromosomes
Marker chromosomes
Aneuploidy
Aneusomy