A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4112082



Internal ID20346017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39702770..39712220hg38UCSC Ensembl
chr4:39704390..39713840hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg389451
hg199451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15891398
Samples
Known GenesUBE2K
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)nsv4112082
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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