A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5214n100



Internal ID19015582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56786612..56999637hg38UCSC Ensembl
chr4:57652778..57865803hg19UCSC Ensembl
chr4:57347535..57560560hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38213026
hg19213026
hg18213026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012287, nsv1012125
Samples
Known GenesNOA1, POLR2B, REST, SPINK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5214n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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