A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189642



Internal ID20401675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94928928..94930754hg38UCSC Ensembl
chr9:97691210..97693036hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985930
Samples
Known GenesC9orf3
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)nsv4189642
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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