A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4161493



Internal ID20381424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123910196..123925599hg38UCSC Ensembl
chr8:124922436..124937839hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3815404
hg1915404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984474
Samples
Known GenesFER1L6
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)nsv4161493
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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