A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162784



Internal ID20035679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3829055..6093709hg38UCSC Ensembl
chr8:3686577..5951231hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382264655
hg192264655
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2526n166
Supporting Variantsnssv15982291
Samples
Known GenesCSMD1
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)nsv4162784
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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