A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599478



Internal ID16040201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115887807..116092684hg38UCSC Ensembl
Innerchr5:115223504..115428381hg19UCSC Ensembl
Innerchr5:115251403..115456280hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38204878
hg19204878
hg18204878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10028n54
Supporting Variantsnssv1040566
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)nsv599478
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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