A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983467



Internal ID20055407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:957433..1187694hg38UCSC Ensembl
chr8:907433..1137694hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38230262
hg19230262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4166716
Supporting Variants
Samples
Known GenesERICH1-AS1
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 ID32461652
Accession Number(s)nssv15983467
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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