A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790389



Internal ID19515762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183807053..184533080hg38UCSC Ensembl
chr4:184728206..185454234hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38726028
hg19726029
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4567240
Supporting Variants
Samples
Known GenesENPP6, IRF2, LOC728175, STOX2
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 ID12345678
Accession Number(s)nssv15790389
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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