A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15816306



Internal ID19888392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41003397..41003533hg38UCSC Ensembl
chr13:41577533..41577669hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529818
Supporting Variants
Samples
Known GenesELF1
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)nssv15816306
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.071112


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