A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11108n54



Internal ID20144532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:551684..552261hg38UCSC Ensembl
chr7:591321..591898hg19UCSC Ensembl
chr7:557847..558424hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38578
hg19578
hg18578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605690, nsv605689
Samples
Known GenesPRKAR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11108n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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