Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals...

have two doses -- one copy from the mother and one from the father. Changes in gene dosage can be a result of copy number variation (gene insertions or...

differences due to mutations occurring during development and gene copy-number variation. Differences between individuals, even closely related individuals...

method has been demonstrated as useful for studying variations in gene sequences—such as copy number variants and point mutations. The polymerase chain...

1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes...

variation in copy number in the human genome which questioned the characteristics of copy number variants in the human genome. It was known that copy...

Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such...

Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions...

compared to an annotated database. Copy-number variations (CNVs) are an abundant form of genome structure variation in humans. A discrete-valued bivariate...

aberration. Before analyzing target genome structural aberration and copy number variation (CNV) with ESP, the target genome is usually amplified and conserved...

substitution and indels. Large-scale structural variation (>1 kb) can be either copy number variation (loss or gain), or chromosomal rearrangement (translocation...

for instance, can be used to capture targets for SNPgenotyping, copy number variation or allelic imbalance studies, to name a few. In SNP genotyping,...

in a case where it is a rare genetic variant Copy-number variation Variant (biology) Genetic variation (disambiguation) Polymorphism (biology), the effect...

RCCX is a complex, multiallelic, and tandem copy number variation (CNV) human DNA locus on chromosome 6p21.3, a cluster located in the major histocompatibility...

regions in the human genome, is highly susceptible to copy number variation due to its frequent low-copy duplications. Whole exon sequencing and quantitative...

specific chromosomes or chromosomal abnormalities. DNA copy number variation: DNA copy number variation can be measured using flow cytometry techniques such...

hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared...

10–15% of autism cases may result from single gene disorders or copy number variations (CNVs)—spontaneous alterations in the genetic material during meiosis...

genetic variants, (2015). Methods to detect rare mutations and copy number variation, (2016). Methods for multi-resolution analysis of cell-free nucleic...

and host genomes using deep sequencing datasets. CNVseq detects copy number variations supported on a statistical model derived from array-comparative...

loss or increased copy number of genes within the deleted or duplicated region. It can also contribute to the copy number variation seen in some gene...

(2015-10-08). "Single molecule sequencing of THCA synthase reveals copy number variation in modern drug-type Cannabis sativa L": 028654. doi:10.1101/028654...

aids in detecting copy number variations, single nucleotide polymorphisms (SNPs), indels, and other genomic structural variations. Virtually started...

Nationaal Vakverbond in Dutch Trade Unions Copy number variation in genetics contingent negative variation in evoked potentials Cranial nerve V, also...

interrupt the genome through insertions, deletions, rearrangements, and copy number variations. L1 activity has contributed to the instability and evolution of...

prognostic role in this disease. Neuroblastoma has been linked to copy-number variation within the NBPF10 gene, which results in the 1q21.1 deletion syndrome...

the deletion is situated. The syndrome is a form of the 1q21.1 copy number variations, and it is a deletion in the distal area of the 1q21.1 part. The...

in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.” Scherer was born in...

Representational oligonucleotide microarray analysis: Detects copy number variation using amplified restriction-digested genomic fragments that are...

2008 study of a new high-definition MLPA probe developed to detect copy number variation at 37 points on chromosome 22q found it to be as reliable as FISH...