ReviewAnnual review of genomics and human genetics2009
Copy number variation in human health, disease, and evolution.
Review in Annual review of genomics and human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 671 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
671 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Retrotransposed gene copies persist under relaxed selection in wild Spodoptera frugiperda.Molecular biology and evolution · 2026Article
- Single-phage profiling illuminates viral individuality during bacterial cell fate determination.Nature communications · 2026Article
- Review
- Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Rapid and repeated evolution of myosin copy number in threespine stickleback.Current biology : CB · 2026Article
- Integrative multi-omics analysis identifies C-type lectin CNVs as functional targets for breeding mastitis-resistant dairy goats.Animal microbiome · 2026Article
- Segmental copy number amplifications are more stable than aneuploidies in the absence of selection.Molecular biology and evolution · 2026Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case-Control Study.Annals of clinical and translational neurology · 2026Article
- PScnv: personalized self-normalizing CNV detection with a hierarchical multi-phase framework.Bioinformatics (Oxford, England) · 2026Article
- Single-phage profiling illuminates viral individuality during cell fate determination.bioRxiv : the preprint server for biology · 2026Article
- The Association of Environmental Variables with Intelligence and Well-Being in Copy Number Variation (CNV) Carriers.Research square · 2026Article
- Article
- The biomedical landscape of genomic structural variation in the qatari population.Nature communications · 2026Article
- AI-enabled multi-omics integration in colorectal cancer: from molecular stratification to clinical translation.Frontiers in cell and developmental biology · 2026Review
- Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle.Journal of advanced research · 2026Article
611 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-specific mutation rates appear much higher for CNVs than for SNPs. By various molecular mechanisms, including gene dosage, gene disruption, gene fusion, position effects, etc., CNVs can cause Mendelian or sporadic traits, or be associated with complex diseases. However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.