A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976497



Internal ID20048437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140835015..140848665hg38UCSC Ensembl
chr5:140214600..140228250hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813651
hg1913651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4122141
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)nssv15976497
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00116


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer