A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598256



Internal ID16385665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59597460..59644014hg38UCSC Ensembl
Innerchr5:58893286..58939840hg19UCSC Ensembl
Innerchr5:58929043..58975597hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3846555
hg1946555
hg1846555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9800n54
Supporting Variantsnssv1033359
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598256
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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