A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4120133



Internal ID20351709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183918613..183920686hg38UCSC Ensembl
chr4:184839766..184841839hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382074
hg192074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15897846
Samples
Known GenesSTOX2
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)nsv4120133
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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