A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1039n145



Internal ID22814055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51986691..51993040hg38UCSC Ensembl
chr6:51851489..51857838hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg386350
hg196350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3116282, nsv3111785
Samplessample102, sample288
Known GenesPKHD1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1039n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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