A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv117n145



Internal ID22813133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230866738..230869973hg38UCSC Ensembl
chr1:231002484..231005719hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383236
hg193236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3113701, nsv3115485
Samplessample138, sample139
Known GenesC1orf198
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv117n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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