A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207692



Internal ID20414740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6892044..6925037hg38UCSC Ensembl
chr11:6913275..6946268hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3832994
hg1932994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952883
Samples
Known GenesOR2D2, OR2D3
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)nsv4207692
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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