A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4194227



Internal ID20058307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63575180..63594669hg38UCSC Ensembl
chr11:63342652..63362141hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3819490
hg1919490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947363
Samples
Known GenesPLA2G16
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 ID12345678
Accession Number(s)nsv4194227
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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