A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953814



Internal ID19679068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24854339..25087823hg38UCSC Ensembl
chr13:25428477..25661961hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38233485
hg19233485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4224638
Supporting Variants
Samples
Known GenesCENPJ, RNF17, TPTE2P1
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)nssv15953814
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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