A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105169



Internal ID20340896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26329900..26334677hg38UCSC Ensembl
chr4:26331522..26336299hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384778
hg194778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15888733
Samples
Known GenesRBPJ
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)nsv4105169
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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