A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977087



Internal ID20049027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160116993..160123993hg38UCSC Ensembl
chr5:159544000..159551000hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4126941
Supporting Variants
Samples
Known GenesPWWP2A
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)nssv15977087
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001177


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