A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955412



Internal ID19680666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102644872..102748519hg38UCSC Ensembl
chr13:103297222..103400869hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38103648
hg19103648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4231147
Supporting Variants
Samples
Known GenesCCDC168, METTL21C, TPP2
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)nssv15955412
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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