A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4166466



Internal ID20038358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33495757..33643067hg38UCSC Ensembl
chr8:33353275..33500585hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38147311
hg19147311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984120
Samples
Known GenesDUSP26, MAK16, RNF122, TTI2
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)nsv4166466
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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