A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4223209



Internal ID20079138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21627416..22246089hg38UCSC Ensembl
chr14:22095569..22713973hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38618674
hg19618405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950861
Samples
Known GenesOR10G2, OR4E2
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)nsv4223209
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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