A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959869



Internal ID20031809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40798095..40803095hg38UCSC Ensembl
chr19:41304000..41309000hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271525
Supporting Variants
Samples
Known GenesEGLN2, RAB4B-EGLN2
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)nssv15959869
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00311


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