A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15800035



Internal ID19872121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14477109..14478469hg38UCSC Ensembl
chr11:14498655..14500015hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4207991
Supporting Variants
Samples
Known GenesCOPB1
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)nssv15800035
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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