A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16080801



Internal ID19806067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53976714..53976715hg38UCSC Ensembl
chr8:54889274..54889275hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4559827
Supporting Variants
Samples
Known GenesTCEA1
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)nssv16080801
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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