A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231925



Internal ID20085376
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 StatusM
Merged Variants
Supporting Variantsnssv15949391
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)nsv4231925
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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