A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117614



Internal ID21300880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89716362..89721543hg38UCSC Ensembl
Innerchr1:90181921..90187102hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg385182
hg195182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv56n145
Supporting Variantsnssv14087932
Samplessample245
Known GenesLRRC8C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117614
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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