A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4166217



Internal ID20038178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39839..319033hg38UCSC Ensembl
chr9:39839..319033hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38279195
hg19279195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984841
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 ID12345678
Accession Number(s)nsv4166217
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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