A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv129n145



Internal ID22813145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244862446..244865063hg38UCSC Ensembl
chr1:245025748..245028365hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382618
hg192618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110167, nsv3115542
Samplessample357, sample136
Known GenesHNRNPU
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv129n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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