A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260135



Internal ID20104494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31388130..31472253hg38UCSC Ensembl
chr18:28968093..29052216hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3884124
hg1984124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959711
Samples
Known GenesDSG3, DSG4
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)nsv4260135
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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