A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954643



Internal ID20026583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71450186..71455079hg38UCSC Ensembl
chr13:72024318..72029211hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg384894
hg194894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4229308
Supporting Variants
Samples
Known GenesDACH1
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)nssv15954643
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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