A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193832



Internal ID20404703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:89476413..89565673hg38UCSC Ensembl
chr11:89209581..89298841hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3889261
hg1989261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953725
Samples
Known GenesNOX4
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)nsv4193832
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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