ArticleNature2006
Global variation in copy number in the human genome.
Article in Nature, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,950 papers, 2 of them syntheses that pooled it.
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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
1,950 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- New techniques to identify the tissue of origin for cancer of unknown primary in the era of precision medicine: progress and challenges.Briefings in bioinformatics · 2024Pooled it
- Association of Fc Gamma Receptor 3B Gene Copy Number Variation with Rheumatoid Arthritis Susceptibility.Genes · 2022Pooled it
- Novel STRs on chromosome 21 and genetic distribution in the Han population.International journal of legal medicine · 2026Article
- Dynamic evolution and hierarchical regulation of rDNA in polyploid oat.The Plant journal : for cell and molecular biology · 2026Article
- Association ofAnimals : an open access journal from MDPI · 2026Article
- Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service.Alcohol, clinical & experimental research · 2026Article
- HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.bioRxiv : the preprint server for biology · 2026Article
- Pangenome-based structural variant imputation enables large-scale genotype-phenotype studies in dairy cattle.Nature communications · 2026Article
- Landscape of copy number variants in Spanish people with dementia.NPJ genomic medicine · 2026Article
- Review
- Whole-genome resequencing suggests adaptive role of copy number variation regions in Indian cattle.Tropical animal health and production · 2026Article
- Exploration of Regulatory Elements, MicroRNAs, and Copy Number Variation in Urogenital Chlamydia Reinfection in African American Women.International journal of molecular sciences · 2026Article
- Article
- Retrotransposed gene copies persist under relaxed selection in wild Spodoptera frugiperda.Molecular biology and evolution · 2026Article
- Maternal copy number variations detected by noninvasive prenatal testing in Japanese women.Journal of human genetics · 2026Article
- Genome-wide copy number variation drives adaptive evolution inCurrent zoology · 2026Article
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- Rapid adaptive increase of amylase gene copy number in Indigenous Andeans.Nature communications · 2026Article
- Insights into Copy Number Variation Architecture in Black Bengal Goat Genome.International journal of molecular sciences · 2026Article
- A dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders.Scientific data · 2026Article
1,890 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
43 authors.
Funding
Abstract
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
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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.