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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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Updated: Jan 13, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Published on: February 21, 2015

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.

Jiong Yan¹, Ziyang Liu², Song Yi³

¹Department of Administration Office, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Molecular Genetics & Genomic Medicine

|January 6, 2026

Summary

Prenatal diagnosis of Williams-Beuren syndrome (WBS) involves copy number variations (CNVs) showing varied ultrasound anomalies. Genetic testing and inheritance analysis are crucial for accurate WBS diagnosis and counseling.

Keywords:

7q11.23 microdeletion SNP array Williams‐Beuren syndrome genetic inheritance prenatal counseling prenatal ultrasound

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Area of Science:

Genetics
Prenatal Diagnosis
Human Diseases

Background:

Williams-Beuren syndrome (WBS) is caused by 7q11.23 deletions, with poorly defined prenatal manifestations.
This study focuses on understanding prenatal phenotypes, inheritance, and outcomes of 7q11.23 copy number variations (CNVs).

Purpose of the Study:

To delineate prenatal phenotypes associated with 7q11.23 CNVs.
To analyze inheritance patterns and pregnancy outcomes for 7q11.23 CNVs.

Main Methods:

Retrospective analysis of 20 prenatal cases with 7q11.23 CNVs.
Diagnosis confirmed via SNP array or CNV sequencing (CNV-seq).
Evaluation of ultrasound findings, genetic results, and pregnancy outcomes.

Main Results:

100% of deletions showed ultrasound anomalies (cardiovascular defects, growth restriction).
50% of duplications presented anomalies (cleft palate, ventriculomegaly).
High rates of termination of pregnancy (76.5%) for de novo CNVs; 4 live births with inherited CNVs.

Conclusions:

7q11.23 CNVs display significant prenatal phenotypic variability and inheritance heterogeneity.
Advanced genomic testing is vital for accurate prenatal diagnosis.
Inheritance pattern analysis aids in genetic counseling for WBS.