A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956230



Internal ID19681484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42899696..43216475hg38UCSC Ensembl
chr13:43473832..43790611hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38316780
hg19316780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4219845
Supporting Variants
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
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)nssv15956230
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer