A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598699



Internal ID16039422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210745..77219999hg38UCSC Ensembl
Innerchr5:76506570..76515824hg19UCSC Ensembl
Innerchr5:76542326..76551580hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg389255
hg199255
hg189255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035162
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598699
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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