A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv682n166



Internal ID22800581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105498233..105547131hg38UCSC Ensembl
chr13:106150582..106199480hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3848899
hg1948899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4229894, nsv4214395
Samples
Known GenesDAOA-AS1
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)dgv682n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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