A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4121932



Internal ID20352971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112239028..112269814hg38UCSC Ensembl
chr5:111574725..111605511hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3830787
hg1930787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977627
Samples
Known GenesEPB41L4A
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)nsv4121932
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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