A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528893



Internal ID20259012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:54540280..54756281hg38UCSC Ensembl
chr11:51362999..51579000hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38216002
hg19216002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15801807
Samples
Known GenesOR4A5, OR4C46
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)nsv4528893
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer