A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16048062



Internal ID20120018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97793538..97793539hg38UCSC Ensembl
chr3:97512382..97512383hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557892
Supporting Variants
Samples
Known GenesARL6
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)nssv16048062
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000876


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