A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8882n54



Internal ID20142306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1086569..1087192hg38UCSC Ensembl
chr4:1080357..1080980hg19UCSC Ensembl
chr4:1070357..1070980hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38624
hg19624
hg18624
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593250, nsv593240, nsv593244
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8882n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss18
Observed Complex0
Frequencyn/a


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