A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15803326



Internal ID19875412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86986228..87002202hg38UCSC Ensembl
chr11:86697270..86713244hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3815975
hg1915975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4202822
Supporting Variants
Samples
Known GenesLOC100506368
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)nssv15803326
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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