A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15800866



Internal ID19872952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:8343039..8441948hg38UCSC Ensembl
chr11:8364586..8463495hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3898910
hg1998910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209446
Supporting Variants
Samples
Known GenesSTK33
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)nssv15800866
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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