A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4109922



Internal ID20344424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69443277..69687928hg38UCSC Ensembl
chr4:70308995..70553646hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38244652
hg19244652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15891535
Samples
Known GenesUGT2A1, UGT2A2, UGT2B4
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)nsv4109922
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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