A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1333n100



Internal ID20152949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:558444..607972hg38UCSC Ensembl
chr12:667610..717138hg19UCSC Ensembl
chr12:537871..587399hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3849529
hg1949529
hg1849529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035145, nsv1046123
Samples
Known GenesB4GALNT3, NINJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1333n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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