A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8885n54



Internal ID20142309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1086603..1087464hg38UCSC Ensembl
chr4:1080391..1081252hg19UCSC Ensembl
chr4:1070391..1071252hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38862
hg19862
hg18862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593245, nsv593247
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8885n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer