A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1484n166



Internal ID22801383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58708504..58708995hg38UCSC Ensembl
chr20:57283560..57284051hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4276176, nsv4533777
Samples
Known GenesNPEPL1, STX16-NPEPL1
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)dgv1484n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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