A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114566



Internal ID21297832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49130645..49133098hg38UCSC Ensembl
Innerchr12:49524428..49526881hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14091370
Samplessample224
Known GenesTUBA1B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114566
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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