A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956404



Internal ID20028344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40258882..40258940hg38UCSC Ensembl
chr15:40551083..40551141hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529145
Supporting Variants
Samples
Known GenesPAK6
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)nssv15956404
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.046853


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