A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3625293



Internal ID18576888
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 StatusS
Merged Variantsnsv1012287
Supporting Variants
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)nssv3625293
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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