A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201331



Internal ID20063463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132954080..133398753hg38UCSC Ensembl
chr11:132823975..133268648hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38444674
hg19444674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954371
Samples
Known GenesOPCML
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)nsv4201331
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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