A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12763n54



Internal ID22780658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76304471..76306933hg38UCSC Ensembl
chr9:78919387..78921849hg19UCSC Ensembl
chr9:78109207..78111669hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382463
hg192463
hg182463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv614694, nsv614693
Samples
Known GenesPCSK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12763n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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