A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv658n166



Internal ID22800557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79806601..79858986hg38UCSC Ensembl
chr13:80380736..80433121hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3852386
hg1952386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4215743, nsv4213354, nsv4230288
Samples
Known Genes
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv658n166
Frequency
Sample Size10847
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer