A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233533



Internal ID20433160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101431749..101585943hg38UCSC Ensembl
chr15:101971954..102126146hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38154195
hg19154193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953965
Samples
Known GenesPCSK6
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)nsv4233533
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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