A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8888n54



Internal ID20142312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1086921..1087519hg38UCSC Ensembl
chr4:1080709..1081307hg19UCSC Ensembl
chr4:1070709..1071307hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593271, nsv593269, nsv593270, nsv593272
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8888n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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