A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949391



Internal ID19674645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111600609..111948393hg38UCSC Ensembl
chr12:112038413..112386197hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38347785
hg19347785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4231925
Supporting Variants
Samples
Known GenesACAD10, ADAM1A, ALDH2, BRAP, MAPKAPK5, MAPKAPK5-AS1, MIR6761, TMEM116
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)nssv15949391
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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