A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954659



Internal ID19679913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72677686..72761790hg38UCSC Ensembl
chr13:73251824..73335928hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3884105
hg1984105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213179
Supporting Variants
Samples
Known GenesBORA, DIS3, MZT1
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)nssv15954659
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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