A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4118918



Internal ID20004160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27885222..27918422hg38UCSC Ensembl
chr6:27853000..27886200hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3833201
hg1933201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978350
Samples
Known GenesHIST1H2AM, HIST1H2BO, HIST1H3J, OR2B2
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)nsv4118918
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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