A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983446



Internal ID19708700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:584878..774450hg38UCSC Ensembl
chr8:534878..724450hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38189573
hg19189573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153146
Supporting Variants
Samples
Known GenesERICH1, ERICH1-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 ID12345678
Accession Number(s)nssv15983446
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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