A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200584



Internal ID20062923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119075577..119076296hg38UCSC Ensembl
chr11:118946287..118947006hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948109
Samples
Known GenesVPS11
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)nsv4200584
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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