A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969970



Internal ID19695224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210212796..210215281hg38UCSC Ensembl
chr2:211077520..211080005hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg382486
hg192486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4084391
Supporting Variants
Samples
Known GenesACADL
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)nssv15969970
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