A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114080



Internal ID21297346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47032180..47105642hg38UCSC Ensembl
Innerchr18:44558551..44632013hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3873463
hg1973463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14098730
Samplessample1
Known GenesKATNAL2, TCEB3B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114080
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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