A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982169



Internal ID19707423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1499282..1844157hg38UCSC Ensembl
chr8:1447448..1792323hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38344876
hg19344876
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4158039
Supporting Variants
Samples
Known GenesARHGEF10, CLN8, DLGAP2, LOC100507435, MIR596
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)nssv15982169
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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