A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16083478



Internal ID19808748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337068..109337069hg38UCSC Ensembl
chr8:110349297..110349298hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4556805
Supporting Variants
Samples
Known GenesENY2
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)nssv16083478
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.156931


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