A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569422



Internal ID20299303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120178744..120178745hg38UCSC Ensembl
chr2:120936320..120936321hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16038782
Samples
Known GenesEPB41L5
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)nsv4569422
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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