A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092818



Internal ID21269190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93438154..93443109hg38UCSC Ensembl
Innerchr12:93831930..93836885hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384956
hg194956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111874
Supporting Variants
Samplessample136
Known GenesUBE2N
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092818
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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