A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598259



Internal ID16385668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59697471..59742784hg38UCSC Ensembl
Innerchr5:58993297..59038610hg19UCSC Ensembl
Innerchr5:59029054..59074367hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3845314
hg1945314
hg1845314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153555
Samples1780862596_A
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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