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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,...
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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
Organization of Genes02:07

Organization of Genes

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Related Experiment Video

Updated: Jun 20, 2026

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells
11:25

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells

Published on: January 25, 2020

[Structural variation in the human genome].

Yong-Shu He1, Wen Zhang, Zhao-Qing Yang

  • 1Department of Biology, Kunming Medical College, Kunming 650031, China. yongshuhe@hotmail.com

Yi Chuan = Hereditas
|August 20, 2009
PubMed
Summary
This summary is machine-generated.

Genomic structural variations, like deletions and duplications, significantly impact gene function and health. Understanding these large DNA changes is crucial for medicine and evolution.

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Last Updated: Jun 20, 2026

3D Multicolor DNA FISH Tool to Study Nuclear Architecture in Human Primary Cells
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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Context:

  • Genomic structural variation involves large DNA segments (>1 kb), including deletions, insertions, duplications, inversions, translocations, and copy number variations (CNVs).
  • These variations are abundant in individual genomes, affecting millions of base pairs and numerous genes.
  • Structural variations can alter gene function, leading to phenotypic changes and disease susceptibility.

Purpose:

  • To review the latest research on human genomic structural variants.
  • To discuss methods for detecting these variants.
  • To explore the impact of structural variants on phenotype, disease, and evolution.

Summary:

  • Genomic structural variations are extensive, encompassing thousands of regions and impacting gene function.
  • Methods for detecting these large-scale DNA alterations are continuously advancing.
  • Research highlights the significant role of structural variations in human health, disease, and evolutionary processes.

Impact:

  • Understanding genomic structural variation is key to analyzing genotype-phenotype correlations.
  • This research aids in identifying potential medical effects and understanding organismal function.
  • Advances in this field contribute to personalized medicine and a deeper comprehension of human evolution.