A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970756



Internal ID20042696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193664495..193664566hg38UCSC Ensembl
chr3:193382284..193382355hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094029
Supporting Variants
Samples
Known GenesOPA1
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)nssv15970756
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001245


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer