A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805148



Internal ID19877234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102130140..102130731hg38UCSC Ensembl
chr11:102000871..102001462hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204713
Supporting Variants
Samples
Known GenesYAP1
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)nssv15805148
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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