A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805271



Internal ID19877357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82882496..82883027hg38UCSC Ensembl
chr11:82593538..82594069hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4194910
Supporting Variants
Samples
Known GenesPRCP
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)nssv15805271
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.019096


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