A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4086683



Internal ID20327181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23814660..23817280hg38UCSC Ensembl
chr3:23856151..23858771hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382621
hg192621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15879403
Samples
Known GenesUBE2E1
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)nsv4086683
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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