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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,...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Telomeres and Telomerase02:41

Telomeres and Telomerase

In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.
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.
Chromosome Duplication02:05

Chromosome Duplication

The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...

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Related Experiment Video

Updated: Jun 24, 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

Human subtelomeric copy number variations.

H Riethman1

  • 1The Wistar Institute, Philadelphia, PA, USA.

Cytogenetic and Genome Research
|March 17, 2009
PubMed
Summary
This summary is machine-generated.

Human subtelomeres exhibit significant copy number variation and allelic disparities. These variations impact gene expression and telomere stability, highlighting the need for advanced tracking methods.

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Human subtelomeres are characterized by extensive copy number variation (CNV) and segmental duplications.
  • Subtelomeric regions comprise a substantial portion of the most distal human DNA, influencing gene dosage and chromatin structure.
  • Structural variations in subtelomeric and subterminal DNA affect the expression of critical genes and non-coding RNAs.

Purpose of the Study:

  • To investigate the extent and nature of subtelomeric structural and copy number variation in humans.
  • To understand the impact of subtelomeric variations on gene expression and telomere function.
  • To develop methods for tracking individual allelic variants within subtelomeric regions.

Main Methods:

  • Analysis of copy number variation in human subtelomeric DNA.
  • Characterization of segmental duplication regions and allelic disparities.
  • Investigation of structural variations in subterminal DNA sequences.

Main Results:

  • Subtelomeric repeats constitute a large fraction of the most distal human DNA.
  • Significant allelic disparities exist in subtelomeric DNA sequence content and organization.
  • Structural variations in subterminal DNA influence the expression of actin-interacting proteins and TERRA transcripts.

Conclusions:

  • Subtelomeric copy number variation and structural complexity are key features of human genomics.
  • Understanding these variations is crucial for comprehending gene regulation, telomere integrity, and chromosome stability.
  • Developing methods to track allelic variants is essential for future genomic research.