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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.[5] It represents about 8% of the total DNA in human cells.[6]

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

G-bands of human chromosome 1 in resolution 850 bphs[19]
Chr. Arm[20] Band[21] ISCN
start[22]
ISCN
stop[22]
Basepair
start
Basepair
stop
Stain[23] Density
1 p 36.33 0 100 1 2,300,000 gneg
1 p 36.32 100 244 2,300,001 5,300,000 gpos 25
1 p 36.31 244 344 5,300,001 7,100,000 gneg
1 p 36.23 344 459 7,100,001 9,100,000 gpos 25
1 p 36.22 459 660 9,100,001 12,500,000 gneg
1 p 36.21 660 861 12,500,001 15,900,000 gpos 50
1 p 36.13 861 1206 15,900,001 20,100,000 gneg
1 p 36.12 1206 1321 20,100,001 23,600,000 gpos 25
1 p 36.11 1321 1521 23,600,001 27,600,000 gneg
1 p 35.3 1521 1651 27,600,001 29,900,000Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth.[14] Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception.[14] Some partial deletions and partial duplications produce birth defects.

The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):