CNV Analysis


Introduction of CNV

Copy number variation (CNV) is caused by the rearrangement of the genome, generally refers to the increase or decrease in the copy number of large fragments of the genome with a length of 1 kb or more, mainly manifested as deletions and duplications at the submicroscopic level. Genome structural variation at the submicron level refers to genomic structural variation with a DNA fragment length of 1Kb-3Mb, including deletions, insertions, duplications, rearrangements, inversions, changes in DNA copy number, etc. These are collectively referred to as CNV (also known as copy number polymorphisms, CNPs). CNV is an important genetic basis for individual differences. It is widely distributed in the human genome. The total number of nucleotides covered by it greatly exceeds the total number of single nucleotide polymorphisms (SNPs), which greatly enriches the diversity of genetic variation in the genome.

Applications of CNV Analysis in Biology

CNV may have very important biological significance for species-specific genome composition, species evolution and phylogeny, and the expression and regulation of genes in certain regions of the genome. Therefore, CNV is also a recent research hotspot in genomics, and abnormal DNA copy number variations are an important molecular mechanism of many human diseases (such as cancer, genetic diseases, and cardiovascular diseases). As a biomarker of diseases, chromosome deletion, amplification and other changes have become the focus of many diseases research. At present, the research on copy number variation mainly focuses on the human genome. The research content includes the detection of CNV polymorphisms in the whole genome, and the association analysis of CNV polymorphisms in a specific region of the genome with certain complex diseases and disease susceptibility, and the evolution of CNV.

KEGG pathway enrichment analysis of differentially expressed genes between S28 and S6.Figure1. Copy number variation detection in chromosome 10 of a simulated sample. (Cheng J, et al. 2011)

What We Offer

CD Genomics provides different types of genotyping analysis services and offers established, cost-efficient and rapid turnaround analysis services for CNV analysis. For CNV analysis, the raw input data can be compared to genome hybrid chip data, SNP chip data, DNA sequencing data, or fluorescence quantitative PCR data. In addition, we are able to accept various formats of data for analysis such as raw data files and other intermediate data formats. We provide our clients with the following data analysis services:

  • According to the analysis needs of customers, develop a personalized analysis plan, or develop a personalized result chart.
  • Professional data analysts evaluate and filter the data, formulate the optimal analysis plan, and perform data analysis.
  • Provide a complete interactive data analysis report, including all analysis methods and results.
  • Post-report follow-ups: We provide professional analysis report interpretation service and biological interpretation of analysis results.
  • Fast turnaround time: we help you achieve your research goals quickly and in a timely manner.

Data Analysis Technical Route

CNV analysis technical route. - CD Genomics.

Data Ready

Before CNV analysis, the first thing is to get your data ready. The raw data or intermediate data can be obtained from the following channels:

Channels of CNV analysis input data. - CD Genomics.

If you do not have data for analysis, CD Genomics can also provide you with different types of microarray, sequencing services, or download related data from existing open databases. If you have any questions about the data analysis cycle, analysis content and price, please click online inquiry.

What's More

Biomedical-Bioinformatics, a division of CD Genomics, provides CNV analysis service according to customers' requirements. CD Genomics has been engaged in genotyping analysis for a long time. In addition to CNV analysis, we also provide various types of genotyping analysis services, such as SNP analysis, SV analysis, and InDel analysis. For CNV analysis, if you have any questions, please feel free to contact us. We have a professional technical support team to provide you with services, and look forward to working with you!


  1. Cheng J, et al. Single-cell copy number variation detection[J]. Genome Biology,12,8(2011-08-19), 2011, 12(8): R80-R80.

* For research use only. Not for use in clinical diagnosis or treatment of humans or animals.

Online Inquiry

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