A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983526



Internal ID19708780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38476219..38555278hg38UCSC Ensembl
chr8:38333737..38412796hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3879060
hg1979060
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164499
Supporting Variants
Samples
Known GenesC8orf86
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)nssv15983526
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000049


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