A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16005284



Internal ID20077240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33831568..33831569hg38UCSC Ensembl
chr13:34405705..34405706hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4543635
Supporting Variants
Samples
Known GenesRFC3
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)nssv16005284
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.314492


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