A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9887n54



Internal ID20143311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77210072..77211305hg38UCSC Ensembl
chr5:76505897..76507130hg19UCSC Ensembl
chr5:76541653..76542886hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598694, nsv598695
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9887n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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