A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4212750



Internal ID20071722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42906156..43218450hg38UCSC Ensembl
chr13:43480292..43792586hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38312295
hg19312295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616n166
Supporting Variantsnssv15956231
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)nsv4212750
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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