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What does the CNV stand for?

Copy number variation (CNV) is defined as a copy number change involving a DNA segment that is 1kb or larger. From: Clinical and Translational Science, 2009.

What are the techniques used to detect CNVs?

Today, there are four main methods for detecting CNVs with NGS data: read-pair, split-read, read-depth, and assembly. Read-depth is the predominant method used in NGS-based CNV calling.

What is CNV disease?

What Does Choroidal Neovascularization Mean? Neovascularization means new blood vessels. These new, abnormal blood vessels originate in the choroid, a vessel-containing layer under the retina.

How do you test for copy number variation?

Copy number variation can be detected with various types of tests such as fluorescent in situ hybridization, comparative genomic hybridization and with high-resolution array-based tests based on array comparative genomic hybridization (or aCGH), SNP array technologies and high resolution microarrays that include copy

What does CNV mean?

Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals genomes. The individual variants may be short or include thousands of bases.

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What is CNV test?

Introduction to CNV Analysis Copy number variations (CNVs) are genomic alterations that result in an abnormal number of copies of one or more genes. Structural genomic rearrangements such as duplications, deletions, translocations, and inversions can cause CNVs.

What is the clinical significance of CNV?

Whole genome or exome copy number variation (CNV) analysis is an accepted first-line screening tool for the evaluation of patients with complex clinical presentations, and also intellectual disability (ID), autism spectrum disorder (ASD) or multiple congenital anomalies (MCA).

What is an example of a CNV?

One of the most well-known examples of a disease-causing CNV is Huntington disease, which is caused by a repeating sequence of three base pairs (known as a trinucleotide repeat) at the end of the coding region of the HTT gene.

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