A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2076n166



Internal ID22801975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160115993..160123993hg38UCSC Ensembl
chr5:159543000..159551000hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4126941, nsv4113432
Samples
Known GenesPWWP2A
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)dgv2076n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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