A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048119



Internal ID18790650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111744441..111875307hg38UCSC Ensembl
Innerchr12:112182245..112313111hg19UCSC Ensembl
Innerchr12:110666628..110797494hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38130867
hg19130867
hg18130867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1556n100
Supporting Variantsnssv3524921, nssv3524918, nssv3524920, nssv3524916, nssv3524919, nssv3524917
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048119
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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