A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563790



Internal ID20293682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173929292..173929293hg38UCSC Ensembl
chr5:173356295..173356296hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16065223
Samples
Known GenesCPEB4
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)nsv4563790
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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