A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4544626



Internal ID20274501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5522752..5522753hg38UCSC Ensembl
chr18:5522751..5522752hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16019521
Samples
Known GenesEPB41L3
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)nsv4544626
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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