A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790063



Internal ID19862118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31701949..32093603hg38UCSC Ensembl
chr3:31743441..32135095hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38391655
hg19391655
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333874
Supporting Variants
Samples
Known GenesOSBPL10, OSBPL10-AS1, ZNF860
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)nssv15790063
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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