A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804971



Internal ID19530371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117999084..117999141hg38UCSC Ensembl
chr11:117869799..117869856hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201326
Supporting Variants
Samples
Known GenesIL10RA
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 ID12345678
Accession Number(s)nssv15804971
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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