A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598696



Internal ID16039419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210281..77211250hg38UCSC Ensembl
Innerchr5:76506106..76507075hg19UCSC Ensembl
Innerchr5:76541862..76542831hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38970
hg19970
hg18970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9888n54
Supporting Variantsnssv1035158
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598696
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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