A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv116n145



Internal ID22813132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227314324..227321464hg38UCSC Ensembl
chr1:227502025..227509165hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387141
hg197141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3115982, nsv3112066
Samplessample372, sample304
Known GenesCDC42BPA
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv116n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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