A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054092



Internal ID19143311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133121951..133201059hg38UCSC Ensembl
Innerchr12:133698537..133777645hg19UCSC Ensembl
Innerchr12:132208610..132287718hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3879109
hg1979109
hg1879109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1596n100
Supporting Variantsnssv3526399
Samples
Known GenesZNF10, ZNF268, ZNF891
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054092
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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