A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167708



Internal ID20039271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:54010..586788hg38UCSC Ensembl
chr9:54010..586788hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38532779
hg19532779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2667n166
Supporting Variantsnssv15984845
Samples
Known GenesC9orf66, CBWD1, DOCK8, FOXD4, KANK1
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)nsv4167708
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer