A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598252



Internal ID16385661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59191938..59323063hg38UCSC Ensembl
Innerchr5:58487764..58618889hg19UCSC Ensembl
Innerchr5:58523521..58654646hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38131126
hg19131126
hg18131126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033355
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598252
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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