A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092878



Internal ID21270323
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 StatusS
Merged Variantsnsv3117467
Supporting Variants
Samplessample149
Known GenesTUBA1B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092878
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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