A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949395



Internal ID20021335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111779295..111878196hg38UCSC Ensembl
chr12:112217099..112316000hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3898902
hg1998902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529177
Supporting Variants
Samples
Known GenesALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
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)nssv15949395
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00083


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