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This article mainly introduces what dbvar is a database, has a certain reference value, interested friends can refer to, I hope you can learn a lot after reading this article, the following let the editor take you to understand it.

Chromosome structural variation structural variation (SV) is defined as DNA structural change above 1kb, which usually includes deletion, repetition, inversion, translocation and, of course, copy number variation (CNV). Chromosome structural variation comes from internal or external causes, many diseases are caused by chromosome structural variation, and environmental factors can also induce structural variation.

CMT is a nervous system disease that affects the peripheral nervous system outside the brain and spinal cord. It is mainly characterized by leg muscle atrophy, difficulty in walking, high foot arch, foot deformity and other symptoms. Scientific studies have found that the disease is associated with a structural variation on chromosome 17, as shown below.

The unequal crossover of two homologous chromosomes produces two genotypes. Genotype A contains three copies of PMP22 gene, while genotype B contains a single copy of PM22 gene. Individuals with genotype A will develop CMT, while individuals with genotype B are susceptible to stress paralysis HNPP.

The dbvar database contains structural variations from a number of research projects at the following URL

Https://www.ncbi.nlm.nih.gov/dbvar/

In this database, the data is divided into three levels

Study, represented by std, represents a research project that contains a set of structural variation analysis results, each study with a unique number, starting with nstd if it is from NCBI, and estd if it is from EBI

Variant regions, represented by sv, represents the region of the genome where there is a structural variation, and it also has a unique number, starting with nsv if it is from NCBI, or esv if it is from EBI.

Variant calls, represented by ssv, represents a specific structural variation event, including deletion, repetition, CNV and other types, and also has a unique number. If it comes from NCBI, it starts with nssv, and if it comes from EBI, it starts with essv.

The corresponding relationship between variant region and variant call is as follows. There can be multiple structural variation events in a chromosome region.

Through the Study Browser menu, you can view the relevant structural variation information in terms of study, as shown below

Through the Genomes Browser menu, you can view the relevant structural variation information in the genome browser, as shown below

The database can be downloaded free of charge at the following ftp address

Ftp://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study

Many formats are provided, such as VCF, CSV, TSV and so on. Dbvar and DGVa from EBI interact with each other to provide structural variation information of healthy and sick humans, while DGV database only contains structural variation information of healthy people.

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