A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2221n166



Internal ID20167649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162127903..162848952hg38UCSC Ensembl
chr6:162548935..163269984hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38721050
hg19721050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4136204, nsv4152071
Samples
Known GenesPACRG, PARK2
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 ID12345678
Accession Number(s)dgv2221n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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