A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv301n166



Internal ID22800200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132338289..132400255hg38UCSC Ensembl
chr10:134151793..134213759hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3861967
hg1961967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4208478, nsv4211657
Samples
Known GenesLRRC27, PWWP2B
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)dgv301n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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