A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599479



Internal ID16040202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115897419..116115272hg38UCSC Ensembl
Innerchr5:115233116..115450969hg19UCSC Ensembl
Innerchr5:115261015..115478868hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38217854
hg19217854
hg18217854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10028n54
Supporting Variantsnssv1040567
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)nsv599479
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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