A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4333603



Internal ID20185970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42941186..43237340hg38UCSC Ensembl
chr13:43515322..43811476hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38296155
hg19296155
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787939
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4333603
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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