A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8881n54



Internal ID20142305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1084808..1093743hg38UCSC Ensembl
chr4:1078596..1087531hg19UCSC Ensembl
chr4:1068596..1077531hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388936
hg198936
hg188936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593239, nsv593242, nsv593257, nsv593249, nsv593243
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8881n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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