A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv66n145



Internal ID22813082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113928175..113931755hg38UCSC Ensembl
chr1:114470797..114474377hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383581
hg193581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3114233, nsv3115282
Samplessample348, sample139
Known GenesHIPK1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv66n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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