A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2220n166



Internal ID22802119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162111452..162654193hg38UCSC Ensembl
chr6:162532484..163075225hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38542742
hg19542742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4136981, nsv4149285, nsv4142748
Samples
Known GenesPARK2
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)dgv2220n166
Frequency
Sample Size10847
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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