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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Genome Copying Errors02:46

Genome Copying Errors

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Related Experiment Video

Updated: Apr 25, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Copy number variation in Thai population.

Bhoom Suktitipat1, Chaiwat Naktang2, Wuttichai Mhuantong3

  • 1Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Integrative Computation BioScience Center (ICBS), Mahidol University, Nakhon Prathom, Thailand.

Plos One
|August 15, 2014
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) are key genetic differences. This study created a Thai CNV database from 3,017 individuals, revealing population-specific CNVs crucial for clinical interpretation in Thailand.

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Area of Science:

  • Genetics and Genomics
  • Population Genetics
  • Bioinformatics

Background:

  • Copy number variation (CNV) is a significant source of genetic diversity and a factor in human evolution.
  • Accurate interpretation of CNVs for clinical diagnostics necessitates comprehensive population-specific data.
  • Previous research indicates that CNVs exhibit population-specific distributions.

Purpose of the Study:

  • To characterize and analyze copy number variations (CNVs) within the Thai population.
  • To establish a high-confidence, publicly accessible Thai CNV database.
  • To compare Thai CNVs with existing global population data for evolutionary and clinical insights.

Main Methods:

  • Genotyping of 3,017 unrelated Thai individuals using Illumina platforms.
  • Identification of CNVs using hidden Markov model and circular binary segmentation algorithms.
  • Cataloging of 23,458 high-confidence CNVs into a dedicated Thai CNV database.

Main Results:

  • A median of eight autosomal CNVs per individual was identified in the Thai population.
  • The vast majority (96.73%) of identified CNVs did not overlap with known chromosomal imbalance syndromes.
  • While sharing some characteristics with HapMap3 populations, a significant proportion of Thai CNVs were low-frequency or unique to the Thai population.
  • Hierarchical clustering of CNV frequencies aligned with established continental groupings (Africans, Europeans, Asians).

Conclusions:

  • The developed Thai CNV database provides a valuable, population-specific reference for clinical interpretation.
  • Understanding population-specific CNV profiles is essential for advancing genetic diagnostics in diverse ethnicities.
  • This resource will aid in investigating the clinical significance of CNVs in Thai and related populations.