A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1139n54



Internal ID20134563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52256302..52261313hg38UCSC Ensembl
chr10:54016062..54021073hg19UCSC Ensembl
chr10:53686068..53691079hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg385012
hg195012
hg185012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550899, nsv550888
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1139n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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