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SgD-CNV, a database for common and rare copy number variants in three Asian populations.

Publication ,  Journal Article
Xu, H; Poh, W-T; Sim, X; Ong, RT-H; Suo, C; Tay, W-T; Khor, C-C; Seielstad, M; Liu, J; Aung, T; Tai, E-S; Wong, T-Y; Chia, K-S; Teo, Y-Y
Published in: Hum Mutat
December 2011

Copy number variants (CNVs) extend our understanding of the genetic diversity in humans. However, the distribution and characteristics of CNVs in Asian populations remain largely unexplored, especially for rare CNVs that have emerged as important genetic factors for complex traits. In the present study, we performed an in-depth investigation of common and rare CNVs across 8,148 individuals from the three major Asian ethnic groups: Chinese (n = 1,945), Malays (n = 2,399), and Indians (n = 2,217) in Singapore, making this investigation the most comprehensive genome-wide survey of CNVs outside the European-ancestry populations to date. We detected about 16 CNVs per individual and the ratio of loss to gain events is ∼2:1. The majority of the CNVs are of low frequency (<10%), and 40% are rare (<1%). In each population, ∼20% of the CNVs are not previously catalogued in the Database of Genomic Variants (DGV). Contrary to findings from European studies, the common CNVs (>5%) in our populations are not well tagged by SNPs in Illumina 1M and 610K arrays, and most disease-associated common CNVs previously reported in Caucasians are rare in our populations. We also report noticeable population differentiation in the CNV landscape of these Asian populations, with the greatest diversity seen between the Indians and the Chinese.

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Published In

Hum Mutat

DOI

EISSN

1098-1004

Publication Date

December 2011

Volume

32

Issue

12

Start / End Page

1341 / 1349

Location

United States

Related Subject Headings

  • Young Adult
  • White People
  • Singapore
  • Middle Aged
  • Male
  • Humans
  • Genetics, Population
  • Genetics & Heredity
  • Genetic Variation
  • Female
 

Citation

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Xu, H., Poh, W.-T., Sim, X., Ong, R.-H., Suo, C., Tay, W.-T., … Teo, Y.-Y. (2011). SgD-CNV, a database for common and rare copy number variants in three Asian populations. Hum Mutat, 32(12), 1341–1349. https://doi.org/10.1002/humu.21601
Xu, Haiyan, Wan-Ting Poh, Xueling Sim, Rick Twee-Hee Ong, Chen Suo, Wan-Ting Tay, Chiea-Chuen Khor, et al. “SgD-CNV, a database for common and rare copy number variants in three Asian populations.Hum Mutat 32, no. 12 (December 2011): 1341–49. https://doi.org/10.1002/humu.21601.
Xu H, Poh W-T, Sim X, Ong RT-H, Suo C, Tay W-T, et al. SgD-CNV, a database for common and rare copy number variants in three Asian populations. Hum Mutat. 2011 Dec;32(12):1341–9.
Xu, Haiyan, et al. “SgD-CNV, a database for common and rare copy number variants in three Asian populations.Hum Mutat, vol. 32, no. 12, Dec. 2011, pp. 1341–49. Pubmed, doi:10.1002/humu.21601.
Xu H, Poh W-T, Sim X, Ong RT-H, Suo C, Tay W-T, Khor C-C, Seielstad M, Liu J, Aung T, Tai E-S, Wong T-Y, Chia K-S, Teo Y-Y. SgD-CNV, a database for common and rare copy number variants in three Asian populations. Hum Mutat. 2011 Dec;32(12):1341–1349.
Journal cover image

Published In

Hum Mutat

DOI

EISSN

1098-1004

Publication Date

December 2011

Volume

32

Issue

12

Start / End Page

1341 / 1349

Location

United States

Related Subject Headings

  • Young Adult
  • White People
  • Singapore
  • Middle Aged
  • Male
  • Humans
  • Genetics, Population
  • Genetics & Heredity
  • Genetic Variation
  • Female