A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16079491



Internal ID19804754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85201337..85201338hg38UCSC Ensembl
chr8:86113572..86113573hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4495850
Supporting Variants
Samples
Known GenesE2F5
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)nssv16079491
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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