A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948980



Internal ID20020920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94057370..94077602hg38UCSC Ensembl
chr11:93790536..93810768hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3820233
hg1920233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4197796
Supporting Variants
Samples
Known GenesHEPHL1
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)nssv15948980
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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