A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15904809



Internal ID19630064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140788287..140809114hg38UCSC Ensembl
chr5:140167872..140188699hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3820828
hg1920828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119875
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4
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)nssv15904809
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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