Hypervariable Region (HV1, HV2)
Definition
Two segments within the mitochondrial D-loop that accumulate sequence variation faster than the coding mitochondrial genome. HV1 spans positions 16024-16365; HV2 spans positions 73-340. Both are routinely sequenced in forensic casework.
Related terms
- AFDIL
- Armed Forces DNA Identification Laboratory, at Dover Air Force Base, Delaware. The US military's central identification laboratory, responsible for mtDNA-based identification of...
- EMPOP
- EMPOP mtDNA Population Database, maintained at the Institute of Legal Medicine, Innsbruck, Austria. Contains over 50,000 curated mtDNA sequences and uses phylogenetic...
- Heteroplasmy
- The co-existence of two or more mitochondrial DNA sequence variants within a single individual, arising from somatic mutation or incomplete segregation. Length...
- rCRS
- The revised Cambridge Reference Sequence (GenBank accession NC_012920), the standard reference for human mitochondrial DNA. All mtDNA variant positions in forensic and...
- RSRS
- Reconstructed Sapiens Reference Sequence (2012). A phylogenetically derived ancestral human mtDNA sequence used in academic population genetics but not in forensic casework...
Explained in
- Mitochondrial DNA Sequencing on HV1/HV2 and the rCRS ReferenceTwo segments within the mitochondrial D-loop that accumulate sequence variation faster than the coding mitochondrial genome. HV1 spans positions 16024-16365; H...