A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14090380



Internal ID21270403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128876095..128880791hg38UCSC Ensembl
Innerchr12:129360640..129365336hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384697
hg194697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114405
Supporting Variants
Samplessample15
Known GenesGLT1D1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14090380
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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