A UK-led team made a detailed analysis of the DNA found in 270 people and identified vast stretches in their codes to be duplicated or even missing.
A great many of these variations are in areas of the genome that would not damage our health, Stephen Scherer and colleagues told the journal Nature.
But others are - and can be shown to play a role in a number of disorders.
To date, the investigation of the human genome has tended to focus on very small changes in DNA that can have deleterious effects - at the scale of just one or a few bases, or "letters", in the biochemical code that programs cellular activity.
And for many years, scientists have also been able to look through microscopes to see very large-scale abnormalities that arise when whole DNA bundles, or chromosomes, are truncated or duplicated.
But it is only recently that researchers have developed the molecular "tools" to focus on medium-scale variations of the code - at the scale of thousands of DNA letters.
Big factor
This analysis of so-called copy number variation (CNV) has now revealed some startling results.
It would seem the assumption that the DNA of any two humans is 99.9% similar in content and identity no longer holds.
"http://news.bbc.co.uk/2/hi/science/nature/6174510.stm":[ http://news.bbc.co.uk/2/hi/science/nature/6174510.stm]