A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16020309



Internal ID19745563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46488396..46488397hg38UCSC Ensembl
chr18:44068359..44068360hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384422
hg194422
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562240
Supporting Variants
Samples
Known GenesLOXHD1
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)nssv16020309
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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