A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598257



Internal ID16385666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59609943..59650813hg38UCSC Ensembl
Innerchr5:58905769..58946639hg19UCSC Ensembl
Innerchr5:58941526..58982396hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3840871
hg1940871
hg1840871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9800n54
Supporting Variantsnssv1033360
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598257
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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