A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv662n166



Internal ID22800561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85114235..85115495hg38UCSC Ensembl
chr13:85688370..85689630hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381261
hg191261
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4335850, nsv4569880
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)dgv662n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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