A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951128



Internal ID20023068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108385232..108396314hg38UCSC Ensembl
chr11:108255959..108267041hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3811083
hg1911083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199684
Supporting Variants
Samples
Known GenesC11orf65
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)nssv15951128
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000645


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