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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%...
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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Genome Copying Errors02:46

Genome Copying Errors

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.
Genetic Variation01:25

Genetic Variation

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, which...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...

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Related Experiment Video

Updated: May 31, 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, noncoding sequences, and human phenotypes.

Eva Klopocki1, Stefan Mundlos

  • 1Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. eva.klopocki@charite.de

Annual Review of Genomics and Human Genetics
|July 16, 2011
PubMed
Summary
This summary is machine-generated.

Structural variants like copy-number variations (CNVs) are genomic changes impacting disease. This review focuses on CNVs in regulatory regions, their associated human phenotypes, and disease mechanisms.

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Last Updated: May 31, 2026

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

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Published on: February 17, 2017

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Single-nucleotide polymorphisms (SNPs) are well-studied in disease predisposition.
  • Structural variants (SVs), including insertions, deletions, inversions, duplications, and translocations, are less understood.
  • Copy-number variations (CNVs) are a class of SVs resulting from deletions or duplications, altering genomic region copy number.

Purpose of the Study:

  • To review copy-number variations (CNVs) specifically within non-transcribed regulatory regions of the genome.
  • To describe human phenotypes associated with these regulatory CNVs.
  • To discuss potential disease mechanisms driven by CNVs in regulatory genomic areas.

Main Methods:

  • Literature review of studies on structural variants and copy-number variations.
  • Analysis of existing data linking CNVs in regulatory regions to human phenotypes.
  • Synthesis of current understanding regarding disease mechanisms involving regulatory CNVs.

Main Results:

  • CNVs can involve transcribed or non-transcribed genomic sequences.
  • While gene duplications/deletions impact gene dosage, the effects of CNVs in non-transcribed regions are less clear.
  • This review highlights CNVs in regulatory non-transcribed regions and their associated human phenotypes.

Conclusions:

  • CNVs in regulatory genomic regions represent an emerging area of genetic research.
  • Understanding these variants is crucial for elucidating novel disease mechanisms.
  • Further investigation into regulatory CNVs may reveal new diagnostic and therapeutic targets.