A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598693



Internal ID16039416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210072..77211063hg38UCSC Ensembl
Innerchr5:76505897..76506888hg19UCSC Ensembl
Innerchr5:76541653..76542644hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38992
hg19992
hg18992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035155
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598693
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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