Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Complex and multi-allelic copy number variation in human disease.

Briefings in functional genomics - 1 Sept 2015

Usher Christina L, McCarroll Steven A

Abstract excerpt

Hundreds of copy number variants are complex and multi-allelic, in that they have many structural alleles and have rearranged multiple times in the ancestors who contributed chromosomes to current humans. Not only are the relationships of these multi-allelic CNVs (mCNVs) to phenotypes generally unknown, but many mCNVs have not yet been described at the basic levels-alleles, allele frequencies, structural...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Disease
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genome, Human

Share to Genomic variations and chromosomal abnormalities

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 26163405
DOI: 10.1093/bfgp/elv028
PMCID: PMC4576757

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complex and multi-allelic copy number variation in human disease.PMID 26163405Read ↗

Human copy number variation and complex genetic disease.Semantic proximity Read ↗

Copy-number variation and association studies of human disease.Semantic proximity Read ↗

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.Semantic proximity Read ↗

Gene copy number variation and common human disease.Semantic proximity Read ↗

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Semantic proximity Read ↗

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.Semantic proximity Read ↗

The clinical context of copy number variation in the human genome.Semantic proximity Read ↗

A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.Semantic proximity Read ↗

Copy number variation in human health, disease, and evolution.Semantic proximity Read ↗

CNVs and genetic medicine (excitement and consequences of a rediscovery).Semantic proximity Read ↗

Influences of rare copy number variation on human complex traitsSemantic proximity Read ↗

A phenome-wide association study identifies effects of copy number variation of VNTRs and multicopy genes on multiple human traitsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.