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DGV specifications

Information


Unique identifier OMICS_00266
Name DGV
Alternative name Database of Genomic Variants
Restrictions to use None
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Publications for Database of Genomic Variants

DGV citations

 (122)
library_books

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

2018
PMCID: 5941813
PMID: 29760780
DOI: 10.1186/s13039-018-0374-4

[…] Clara, USA) according to the manufacturer’s instructions. Changes identified in the samples were visualized using the UCSC Genome Browser online tool (http://genome.ucsc.edu) and were compared to the Database of Genomic Variants (http://projects.tcag.ca/variation) to exclude copy number changes considered to be benign variants. The DECIPHER (Database of Chromosomal Imbalance and Phenotype in Human […]

library_books

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32 q13.33 and mosaic monosomy 22

2018
PMCID: 5923029
PMID: 29736186
DOI: 10.1186/s13039-018-0375-3

[…] Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources [http://decipher.sanger.ac.uk].Database of Genomic Variants [http://projects.tcag.ca/variation].NCBI Gene Database [http://www.ncbi.nlm.nih.gov/gene].Online Mendelian Inheritance in Man [http://omim.org].Primer3 (v. 0.4.0) [http:// […]

library_books

EAGLE: Explicit Alternative Genome Likelihood Evaluator

2018
BMC Med Genomics
PMCID: 5918433
PMID: 29697369
DOI: 10.1186/s12920-018-0342-1

[…] GLE, and likely indicates copy number variations. Indeed, the top 10 false positive GIAB SNPs (in terms of likelihood ratio) had very high read depths and are all copy number variations listed in the Database of Genomic Variants [].Finally, we note that the issue of alternative representations of equivalent complex variants complicated the analysis. In the standard variant calling format (VCF) one […]

library_books

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T PLL

2018
Nat Commun
PMCID: 5814445
PMID: 29449575
DOI: 10.1038/s41467-017-02688-6

[…] for split-read support (more precise breakpoint localization). For structural variations affecting TCL1 oncogenes, we applied more lenient filters (genotype likely somatic). CN neutral entries in the database of genomic variants (GRCh37_hg19_variants_2013-07-23) were further used to filter within a 1 kb breakpoint window. The resulting list was then annotated with the COSMIC SV data sheet (02/04/2 […]

library_books

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

2018
Sci Rep
PMCID: 5797100
PMID: 29396419
DOI: 10.1038/s41598-018-20691-9

[…] on was regarded as copy number variants (CNVs). The genomic position was based on human GRCh37/hg19. CNVs were regarded as normal variants if they have been registered in the public databases such as Database of Genomic Variants (http://dgv.tcag.ca/dgv/app/home) and ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/).CAG repeat length on exon 1 of AR was determined for PCR products obtained with a fluo […]

library_books

Genomic analysis of head and neck cancer cases from two high incidence regions

2018
PLoS One
PMCID: 5788352
PMID: 29377909
DOI: 10.1371/journal.pone.0191701

[…] ackage crlmm [] was used for pre-processing, genotyping and calculation of circular binary segmentation to estimate the normalized copy number. Germline copy number alterations were removed using the Database of Genomic Variants []. Identification of significant amplified or deleted regions was performed by using GISTIC 2.0 [] using 99% confidence level and q-value threshold 0.25. Focal amplificat […]


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DGV institution(s)
The Centre for Applied Genomics, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

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