A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1132n54



Internal ID20134556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51446996..51452231hg38UCSC Ensembl
chr10:53206756..53211991hg19UCSC Ensembl
chr10:52876762..52881997hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg385236
hg195236
hg185236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550865, nsv550866, nsv550864, nsv550863, nsv550861, nsv550862
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1132n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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