• Thumbnail for Copy number variation
    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...
    46 KB (5,325 words) - 21:58, 12 April 2025
  • Thumbnail for 1q21.1 copy number variations
    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...
    6 KB (840 words) - 17:41, 30 May 2025
  • method has been demonstrated as useful for studying variations in gene sequences—such as copy number variants and point mutations. The polymerase chain...
    70 KB (7,425 words) - 06:06, 2 June 2025
  • Thumbnail for Human genetic variation
    differences due to mutations occurring during development and gene copy-number variation. Differences between individuals, even closely related individuals...
    103 KB (11,131 words) - 16:43, 30 May 2025
  • 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...
    6 KB (714 words) - 22:53, 3 June 2025
  • Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions...
    37 KB (3,555 words) - 16:36, 30 August 2024
  • Thumbnail for Copy number analysis
    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...
    4 KB (422 words) - 00:48, 21 July 2023
  • compared to an annotated database. Copy-number variations (CNVs) are an abundant form of genome structure variation in humans. A discrete-valued bivariate...
    28 KB (3,896 words) - 21:05, 1 April 2025
  • Thumbnail for End-sequence profiling
    aberration. Before analyzing target genome structural aberration and copy number variation (CNV) with ESP, the target genome is usually amplified and conserved...
    13 KB (1,534 words) - 00:32, 3 December 2023
  • Thumbnail for Structural variation in the human genome
    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...
    29 KB (3,756 words) - 15:12, 9 June 2025
  • Thumbnail for Genetic variation
    substitution and indels. Large-scale structural variation (>1 kb) can be either copy number variation (loss or gain), or chromosomal rearrangement (translocation...
    29 KB (3,582 words) - 04:26, 17 March 2025
  • 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...
    28 KB (3,370 words) - 05:58, 2 June 2025
  • for instance, can be used to capture targets for SNPgenotyping, copy number variation or allelic imbalance studies, to name a few. In SNP genotyping,...
    40 KB (4,910 words) - 04:37, 3 December 2023
  • Thumbnail for 1q21.1 duplication syndrome
    regions in the human genome, is highly susceptible to copy number variation due to its frequent low-copy duplications. Whole exon sequencing and quantitative...
    21 KB (2,031 words) - 19:58, 29 October 2024
  • 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...
    40 KB (5,286 words) - 05:27, 17 June 2024
  • Thumbnail for Flow cytometry
    specific chromosomes or chromosomal abnormalities. DNA copy number variation: DNA copy number variation can be measured using flow cytometry techniques such...
    60 KB (6,920 words) - 17:32, 23 May 2025
  • Thumbnail for Representational oligonucleotide microarray analysis
    genomic copy number variation in cancer and other genetic diseases. In this technique, two genomes are compared for their differences in copy number on a...
    3 KB (416 words) - 11:34, 10 October 2024
  • Thumbnail for Heritability of autism
    10–15% of autism cases may result from single gene disorders or copy number variations (CNVs)—spontaneous alterations in the genetic material during meiosis...
    116 KB (11,125 words) - 05:51, 2 June 2025
  • Nationaal Vakverbond in Dutch Trade Unions Copy number variation in genetics contingent negative variation in evoked potentials Cranial nerve V, also...
    663 bytes (103 words) - 15:52, 1 December 2018
  • Thumbnail for Stephen W. Scherer
    in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.” Scherer was born in...
    53 KB (5,060 words) - 18:08, 22 May 2025
  • and host genomes using deep sequencing datasets. CNVseq detects copy number variations supported on a statistical model derived from array-comparative...
    164 KB (20,394 words) - 21:36, 16 June 2025
  • Thumbnail for AK-47 (cannabis)
    (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...
    9 KB (959 words) - 06:26, 19 April 2025
  • Thumbnail for Haploinsufficiency
    and disease phenotype is present. Copy number variation (CNV) refers to the differences in the number of copies of a particular region of the genome...
    11 KB (1,190 words) - 11:26, 25 May 2025
  • Thumbnail for Neuroblastoma
    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...
    69 KB (7,183 words) - 18:46, 9 June 2025
  • Thumbnail for Comparative genomics
    aids in detecting copy number variations, single nucleotide polymorphisms (SNPs), indels, and other genomic structural variations. Virtually started...
    79 KB (8,127 words) - 14:17, 15 June 2025
  • Thumbnail for DiGeorge syndrome
    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...
    51 KB (5,489 words) - 15:17, 23 May 2025
  • 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...
    5 KB (528 words) - 20:22, 9 March 2024
  • Thumbnail for LINE1
    interrupt the genome through insertions, deletions, rearrangements, and copy number variations. L1 activity has contributed to the instability and evolution of...
    26 KB (2,837 words) - 15:03, 3 August 2024
  • Thumbnail for Oncogenomics
    Representational oligonucleotide microarray analysis: Detects copy number variation using amplified restriction-digested genomic fragments that are...
    66 KB (7,684 words) - 22:49, 25 April 2024
  • Thumbnail for Short interspersed nuclear element
    making them useful markers of divergent evolution between species. Copy number variation and mutations in the SINE sequence make it possible to construct...
    41 KB (5,252 words) - 01:07, 16 June 2025