A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1040566



Internal ID15547066
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 StatusS
Merged Variantsnsv599478
Supporting Variants
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)nssv1040566
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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