A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956226



Internal ID20028166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42858881..42978241hg38UCSC Ensembl
chr13:43433017..43552377hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38119361
hg19119361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213821
Supporting Variants
Samples
Known GenesEPSTI1
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)nssv15956226
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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