A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598254



Internal ID16385663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59419956..59627775hg38UCSC Ensembl
Innerchr5:58715782..58923601hg19UCSC Ensembl
Innerchr5:58751539..58959358hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38207820
hg19207820
hg18207820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033357
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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