estd213 (Mokhtar et al. 2014)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Boon Peng Hoh
- Description:
- Copy number variation (CNV) has been recognized as a major contributor to human genome diversity. It plays an important role in determining phenotypes and has been associated with a number of common and complex diseases. However CNV data from diverse populations is still limited. Here we report the first investigation of CNV in the indigenous populations from Peninsular Malaysia. We genotyped 34 Negrito genomes from Peninsular Malaysia using the Affymetrix SNP 6.0 microarray and identified 48 putative novel CNVs, consisting of 24 gains and 24 losses, of which 5 were identified in at least 2 unrelated samples. These CNVs appear unique to the Negrito population and were absent in the DGV, HapMap3 and Singapore Genome Variation Project (SGVP) datasets. See Variant Summary counts for estd213 in dbVar Variant Summary.
- Publication(s):
- Mokhtar et al. 2014