A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1554n100



Internal ID20153170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109104860..109232663hg38UCSC Ensembl
chr12:109542665..109670468hg19UCSC Ensembl
chr12:108027048..108154851hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38127804
hg19127804
hg18127804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046546, nsv1040364, nsv1052416, nsv1042810, nsv1048722
Samples
Known GenesACACB, UNG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1554n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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