A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185073



Internal ID20051705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122822285..122873478hg38UCSC Ensembl
chr9:125584564..125635757hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3851194
hg1951194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987144
Samples
Known GenesPDCL, RC3H2
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)nsv4185073
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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