A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3022n54



Internal ID18995198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132303390..132305655hg38UCSC Ensembl
chr12:132879976..132882241hg19UCSC Ensembl
chr12:131390049..131392314hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382266
hg192266
hg182266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560978, nsv560979, nsv560977
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3022n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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