Chromosome 1 (human)

Chromosome 1 (human)
Pair of human chromosome 1 (after G-banding). One is from mother, one is from father.
Chromosome 1 pair in human male karyogram.
Features
Length (bp)	248,956,422 bp
No. of genes	2,968
Type	Autosome
Centromere position	125 Mbp
Identifiers
RefSeq	NC_000001
GenBank	CM000663

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 9% of the total DNA in human cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 12%, with one estimate giving 5,078 genes, and the other estimate giving 4,474 genes.

It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

The following are some of the genes located on chromosome 1:

Chromosome 1 contains 246 million base pairs

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):