A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954687



Internal ID19679941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75566770..75675111hg38UCSC Ensembl
chr13:76140906..76249247hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38108342
hg19108342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4212739
Supporting Variants
Samples
Known GenesLMO7, UCHL3
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)nssv15954687
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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