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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Analysis of chromosomal imbalances by comparative genomic hybridisation of pigmented villonodular synovitis

Irina Berger1, Ralf Rieker, Volker Ehemann

  • 1Institute of Pathology, Ruprecht-Karls-University, Im Neienheimer Feld 220/221, Heidelberg D-69120, Germany. irina_berger@med.uni-heidelberg.de

Cancer Letters
|March 16, 2005
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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...
Comparing Copy Number Variations and SNPs02:26

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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%...