A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598258



Internal ID16385667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59641117..59728044hg38UCSC Ensembl
Innerchr5:58936943..59023870hg19UCSC Ensembl
Innerchr5:58972700..59059627hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3886928
hg1986928
hg1886928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153554
Samples1780862301_A
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598258
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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