A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15926491



Internal ID19651745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66667736..66672281hg38UCSC Ensembl
chr8:67579971..67584516hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg384546
hg194546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153321
Supporting Variants
Samples
Known GenesC8orf44, C8orf44-SGK3
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 ID12345678
Accession Number(s)nssv15926491
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer