A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9746n54



Internal ID22777641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45285616..45470321hg38UCSC Ensembl
chr5:45285718..45470423hg19UCSC Ensembl
chr5:45321475..45506180hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38184706
hg19184706
hg18184706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597979, nsv597974, nsv597978, nsv597973
SamplesNINDS_222
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9746n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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