A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv52n54



Internal ID20133476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3167416..3169932hg38UCSC Ensembl
chr1:3083980..3086496hg19UCSC Ensembl
chr1:3073840..3076356hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382517
hg192517
hg182517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545101, nsv545112
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv52n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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