A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2682n54



Internal ID22770577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64609189..64806142hg38UCSC Ensembl
chr12:65002969..65199922hg19UCSC Ensembl
chr12:63289236..63486189hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38196954
hg19196954
hg18196954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559204, nsv559203
Samples
Known GenesGNS, MIR548C, MIR548Z, RASSF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2682n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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