A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199755



Internal ID20408996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48234530..48888316hg38UCSC Ensembl
chr11:48256082..48909868hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38653787
hg19653787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952922
Samples
Known GenesOR4A47, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2
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)nsv4199755
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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