A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4481111



Internal ID20211152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67666150..67666151hg38UCSC Ensembl
chr8:68578385..68578386hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16081952
Samples
Known GenesCPA6
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)nsv4481111
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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