A / B / C / D / E / F / G / H / I / J / K / L / M / N / O / P / Q / R / S / T / U / V / W / X / Y

Han Chinese in Beijing, China (CHB):

A sample set commonly used in human genetics research to represent the Han Chinese people, one of the 56 official ethnicities in China. No phenotypic information was collected on these samples.


A series of neighboring alleles (genetic variants) at neighboring loci that are inherited as a unit.


When a single copy of the normal gene product is insufficient for normal protein production and results in genetic disease.


A mixture of mitochondria in a single cell. Some of the mitochondria may contain wild-type DNA and some may contain mutant DNA.

Heterozygote (het):

An individual with two different alleles at a given location/locus in the human genome. May also be denoted as heterozygous. 


When all of the mitochondria in a single cell are identical.

Homozygote (hom):

An individual who has two identical alleles at a given location/locus in the human genome, one on each chromosome of a pair. May also be denoted as homozygous.