A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805676



Internal ID19877762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124023293..124029293hg38UCSC Ensembl
chr11:123894000..123900000hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4192679
Supporting Variants
Samples
Known GenesOR10G9
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)nssv15805676
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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