A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012287



Internal ID18754820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56786612..56987319hg38UCSC Ensembl
Innerchr4:57652778..57853485hg19UCSC Ensembl
Innerchr4:57347535..57548242hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38200708
hg19200708
hg18200708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5214n100
Supporting Variantsnssv3625293
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)nsv1012287
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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