Official Journal of the Human Genome Organisation
Table 7 Copy number variations (CNVs) in the genes associated with congenital long QT syndrome (LQTS)
Gene ID | NCBI copy number variation ID | Genomic position | Cytogenetic band | References |
|---|---|---|---|---|
KCNQ1 | Variation_29897 | chr11:2,486,738..2,516,911 | 11p15.5 | Jakobsson et al. (2008) |
KCNH2 | Variation_3710 | chr7:149,882,882..150,094,737 | 7q36.1 | Redon et al. (2006) |
Variation_22718 | chr7:149,931,990..149,938,943 | 7q36.1 | Korbel et al. (2007) | |
Variation_38031 | chr7:149,916,734..149,932,502 | 7q36.1 | McCarroll et al. (2008) | |
SCN5A | Variation_36146 | chr3:38,587,021..38,616,870 | 3p22.2 | Kidd et al. (2008) |
KCNE1 and KCNE2 | Variation_34534 | chr21:34,648,096..34,829,283 | 21q22.11–21q22.12 | |
Variation_26957 | chr21:34,700,265..34,700,265 |