A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15800667



Internal ID19872753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:22841959..22875997hg38UCSC Ensembl
chr11:22863505..22897543hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3834039
hg1934039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4197701
Supporting Variants
Samples
Known GenesCCDC179
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)nssv15800667
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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