A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15904837



Internal ID19976778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141241086..141250342hg38UCSC Ensembl
chr5:140620654..140629910hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389257
hg199257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119400
Supporting Variants
Samples
Known GenesPCDHB15, 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)nssv15904837
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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