A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012125



Internal ID18754661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56802063..56999637hg38UCSC Ensembl
Innerchr4:57668229..57865803hg19UCSC Ensembl
Innerchr4:57362986..57560560hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38197575
hg19197575
hg18197575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5214n100
Supporting Variantsnssv3625294
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)nsv1012125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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