A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10028n54



Internal ID20143452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115887807..116115272hg38UCSC Ensembl
chr5:115223504..115450969hg19UCSC Ensembl
chr5:115251403..115478868hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38227466
hg19227466
hg18227466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599478, nsv599479
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10028n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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