A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983583



Internal ID19708837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43081856..43178857hg38UCSC Ensembl
chr8:42936999..43034000hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3897002
hg1997002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4527086
Supporting Variants
Samples
Known GenesFNTA, HGSNAT, POMK
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)nssv15983583
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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