A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276176



Internal ID20461390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58708504..58708964hg38UCSC Ensembl
chr20:57283560..57284020hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1484n166
Supporting Variantsnssv15964939
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)nsv4276176
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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