A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953938



Internal ID20025878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51737863..51793864hg38UCSC Ensembl
chr13:52311999..52368000hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3856002
hg1956002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529067
Supporting Variants
Samples
Known GenesDHRS12, WDFY2
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)nssv15953938
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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