A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598695



Internal ID16039418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210124..77211305hg38UCSC Ensembl
Innerchr5:76505949..76507130hg19UCSC Ensembl
Innerchr5:76541705..76542886hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381182
hg191182
hg181182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9887n54
Supporting Variantsnssv1035157
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598695
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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