DNA Copy Number Variations
"DNA Copy Number Variations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
| Descriptor ID |
D056915
|
| MeSH Number(s) |
G05.365.795.297.500
|
| Concept/Terms |
DNA Copy Number Variations- DNA Copy Number Variations
- DNA Copy Number Variation
- DNA Copy Number Variants
- Copy Number Variants, DNA
- Copy Number Variation, DNA
DNA Copy Number Polymorphisms- DNA Copy Number Polymorphisms
- DNA Copy Number Polymorphism
- Copy Number Polymorphisms
- Copy Number Polymorphism
- Polymorphism, Copy Number
- Polymorphisms, Copy Number
|
Below are MeSH descriptors whose meaning is more general than "DNA Copy Number Variations".
Below are MeSH descriptors whose meaning is more specific than "DNA Copy Number Variations".
This graph shows the total number of publications written about "DNA Copy Number Variations" by people in this website by year, and whether "DNA Copy Number Variations" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2009 | 2 | 1 | 3 |
| 2010 | 3 | 8 | 11 |
| 2011 | 17 | 8 | 25 |
| 2012 | 18 | 16 | 34 |
| 2013 | 15 | 11 | 26 |
| 2014 | 12 | 14 | 26 |
| 2015 | 13 | 28 | 41 |
| 2016 | 14 | 21 | 35 |
| 2017 | 15 | 17 | 32 |
| 2018 | 13 | 14 | 27 |
| 2019 | 11 | 16 | 27 |
| 2020 | 13 | 23 | 36 |
| 2021 | 15 | 16 | 31 |
| 2022 | 4 | 7 | 11 |
| 2023 | 1 | 3 | 4 |
| 2024 | 8 | 9 | 17 |
| 2025 | 7 | 10 | 17 |
| 2026 | 1 | 6 | 7 |
To return to the timeline,
click here.
Below are the most recent publications written about "DNA Copy Number Variations" by people in Profiles.
-
Small partial deletion of a highly GC-rich FOXF1 exon 1 in two deceased siblings with alveolar capillary dysplasia. Genomics. 2026 Jul; 118(4):111259.
-
Genomic Characterization of a Locally Transmitted Leishmania mexicana Isolate from Texas. Am J Trop Med Hyg. 2026 Jun 03; 114(6):1104-1108.
-
Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex. Genet Med. 2026 Jun; 28(6):102582.
-
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline. Am J Med Genet A. 2026 Aug; 200(8):1832-1841.
-
Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations. Genome Med. 2026 Apr 01; 18(1).
-
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications. Genome Res. 2026 Mar 02; 36(3):460-471.
-
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes. Nature. 2026 04; 652(8110):675-685.
-
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 12 31; 18(1):16.
-
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes. Genome Med. 2025 10 24; 17(1):129.
-
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective. Eur J Hum Genet. 2026 01; 34(1):90-98.