A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4135666



Internal ID20362684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53349026..53358910hg38UCSC Ensembl
chr6:53213824..53223708hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg389885
hg199885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978975
Samples
Known GenesELOVL5
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)nsv4135666
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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