A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4165288



Internal ID20384189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:55436..413901hg38UCSC Ensembl
chr9:55436..413901hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38358466
hg19358466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2668n166
Supporting Variantsnssv15984846
Samples
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
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)nsv4165288
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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