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Copy Number Variation (CNV) Analysis

Copy Number Variation (CNV) Analysis

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Overview of Copy Number Variation

Copy number variations refer to the presence of extra or missing copies of a particular DNA segment compared to the reference genome. These variations can range in size from a few base pairs to large segments of DNA encompassing multiple genes.

CNVs can arise from various mechanisms, including DNA replication errors, genomic rearrangements, and chromosomal abnormalities. They can be inherited from parents or occur de novo (new mutations) in an individual's genome. CNVs have been found to play a significant role in human genetic variation and disease susceptibility.

The analysis of CNVs is important because these genomic alterations can have significant functional consequences. They can disrupt the dosage and expression levels of genes, affecting their normal function. CNVs have been implicated in a wide range of human diseases, including cancer, neurodevelopmental disorders, cardiovascular diseases, and more.

Copy Number Variant detection by alignment of whole-exome sequencing reads to a reference genome.Copy Number Variant detection by alignment of whole-exome sequencing reads to a reference genome. (Xing et al., 2020)

Our CNV Analysis Service

In bioinformatics, CNV analysis involves a series of computational and statistical methods to detect, characterize, and interpret copy number variations from genomic data.

CD Genomics Variant Detection and Analysis PipelineCD Genomics Variant Detection and Analysis Pipeline

With our service, you can expect:

  • Data Processing and Quality Control: We ensure that your CNV data undergoes rigorous quality control measures to eliminate technical artifacts and ensure the reliability of the results. Our team of experts performs thorough data preprocessing, normalization, and quality assessment to optimize the accuracy and comparability of your data.
  • High-Resolution CNV Detection: Using state-of-the-art algorithms and cutting-edge technologies, we are capable of detecting CNVs at high resolution. Whether you have microarray data, next-generation sequencing (NGS) data or long-read sequencing data, we employ specialized tools and methodologies to identify CNVs with enhanced precision and sensitivity.
  • Customized Analysis Pipelines: We understand that each research project or clinical study is unique, and therefore we offer flexible analysis pipelines tailored to your specific needs. Our experienced bioinformaticians work closely with you to design a customized analysis strategy that aligns with your research objectives, ensuring that you obtain the most relevant and meaningful results.
  • Comprehensive Annotation and Interpretation: Our CNV Analysis Service includes comprehensive annotation and interpretation of the detected CNVs. We leverage extensive databases and functional annotations to provide insights into the potential functional consequences of CNVs, including their impact on genes, pathways, and regulatory elements. This enables a better understanding of the biological implications and potential clinical relevance of the identified CNVs.
  • Integration with Additional Data Types: We offer the integration of CNV data with other genomic datasets, such as gene expression data, epigenetic data, or clinical information. By integrating multiple layers of genomic data, we can uncover complex relationships and gain a deeper understanding of the molecular mechanisms underlying CNVs and their associations with diseases or traits.
  • Clear and Actionable Reports: Our CNV Analysis Service delivers clear and concise reports summarizing the results of the analysis. The reports are designed to be easily interpretable and provide you with actionable insights. We strive to ensure that our reports enable you to make informed decisions and drive your research or clinical investigations forward.
  • Data Confidentiality and Security: We prioritize the confidentiality and security of your data. We have robust data management protocols in place to ensure the privacy and protection of your genomic data throughout the analysis process. You can trust that your data will be handled with the utmost care and in compliance with the highest standards of data security.

How It Works

By choosing Our CNV Analysis Service, you gain access to cutting-edge technology, expertise in bioinformatics, and a dedicated team of professionals who are committed to delivering accurate and reliable results. We aim to empower your research and clinical endeavors by providing valuable insights into the role of CNVs in human genetics and disease.

Initial Consultation

Initial Consultation

  • Initiate a meeting with our experts to gain a clear understanding of your specific research goals and objectives.
  • Define the scope of work and outline the key deliverables.
  • Determine sample preparation and sequencing requirements.
  • Provide an estimated schedule and budget, ensuring transparency and facilitating effective planning.

Project Confirmation

Project Confirmation

  • If you don't have data yet, we can also provide omics sequencing services.
  • Finalize the project details, including specific SNP calling services to be provided. Confirm the deliverables and formalize the project agreement.

Data Analysis

Data Analysis

  • Perform quality control and data filtering.
  • Align the reads to the reference genome.
  • Identify and annotate genetic variants with relevant information.
  • Further downstream analysis, such as functional annotation, pathway analysis, or gene network analysis.


Results Delivery

  • Provide the client with a detailed report about the identified SNPs, their genomic coordinates, quality metrics, and relevant annotations
  • Include visualizations of the data.
  • Provide recommendations for future research directions.


  1. Xing, Yue, et al. "SECNVs: a simulator of copy number variants and whole-exome sequences from reference genomes." Frontiers in Genetics (2020): 82.
* For Research Use Only. Not for use in diagnostic procedures.
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