A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16052126



Internal ID19777380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193636369..193636370hg38UCSC Ensembl
chr3:193354158..193354159hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4560624
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 ID12345678
Accession Number(s)nssv16052126
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.433115


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