A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9801n54



Internal ID22777696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60190941..60200348hg38UCSC Ensembl
chr5:59486768..59496175hg19UCSC Ensembl
chr5:59522525..59531932hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg389408
hg199408
hg189408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598261, nsv598262
Samples
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9801n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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