A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951976



Internal ID20023916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112784686..112790386hg38UCSC Ensembl
chr13:113439000..113444700hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220361
Supporting Variants
Samples
Known GenesATP11A
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)nssv15951976
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000095


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