A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598698



Internal ID16039421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210360..77211250hg38UCSC Ensembl
Innerchr5:76506185..76507075hg19UCSC Ensembl
Innerchr5:76541941..76542831hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38891
hg19891
hg18891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9888n54
Supporting Variantsnssv1035160, nssv1035161
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598698
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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