A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4113435



Internal ID20346972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141236231..141241642hg38UCSC Ensembl
chr5:140615803..140621210hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385412
hg195408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976513
Samples
Known GenesPCDHB18, PCDHB19P
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)nsv4113435
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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