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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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Related Experiment Video

Updated: Jun 22, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Copy number variations and cancer.

Adam Shlien1, David Malkin

  • 1Departments of Genetics and Genome Biology and Division of Hematology/Oncology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.

Genome Medicine
|July 2, 2009
PubMed
Summary

DNA copy number variations (CNVs) significantly impact genome structure and disease susceptibility. This study explores the role of both germline and somatic CNVs in various human cancers, highlighting their underappreciated contribution to cancer risk.

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Last Updated: Jun 22, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Published on: February 17, 2017

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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Area of Science:

  • Genetics
  • Genomics
  • Cancer Biology

Background:

  • DNA copy number variations (CNVs) represent a significant source of genetic variation, impacting a larger portion of the genome than single nucleotide polymorphisms (SNPs).
  • High-resolution SNP arrays enable the identification and characterization of both constitutional (germline) and somatic CNVs.
  • Germline CNVs are linked to disease susceptibility, while somatic CNVs are relevant to disease phenotypes.

Purpose of the Study:

  • To provide a comprehensive overview of current knowledge regarding CNVs in the human genome.
  • To explore the emerging evidence associating constitutional and somatic CNVs with human cancers.
  • To emphasize the underappreciated role of CNVs as cancer risk factors.

Main Methods:

  • Review of existing literature on DNA copy number variations.
  • Analysis of studies investigating the association between CNVs and cancer.
  • Synthesis of findings on the role of germline and somatic CNVs in cancer development and phenotypes.

Main Results:

  • CNVs affect a substantial fraction of the genome and play a role in various diseases.
  • Somatic CNVs are implicated in identifying genomic regions associated with disease phenotypes.
  • The association between CNVs and cancer risk is an emerging area of research.

Conclusions:

  • Genomic instability in cancer cells makes CNVs a compelling area of study.
  • Both constitutional and somatic CNVs are increasingly recognized for their involvement in a wide range of human cancers.
  • Further research into CNVs is crucial for understanding their role in cancer etiology and progression.