A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487716



Internal ID21145269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111742954..111877939hg38UCSC Ensembl
chr12:112180758..112315743hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38134986
hg19134986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184036
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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