A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117467



Internal ID21300733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49130515..49132245hg38UCSC Ensembl
Innerchr12:49524298..49526028hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381731
hg191731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092878
Samplessample149
Known GenesTUBA1B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117467
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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