A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080084



Internal ID19975643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217274946..217326658hg38UCSC Ensembl
chr2:218139669..218191381hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3851713
hg1951713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970033
Samples
Known GenesDIRC3
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)nsv4080084
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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