A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1133n54



Internal ID20134557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51615660..51681247hg38UCSC Ensembl
chr10:53375420..53441007hg19UCSC Ensembl
chr10:53045426..53111013hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3865588
hg1965588
hg1865588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550870, nsv550871
Samples1780862194_A
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1133n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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