A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512304



Internal ID6101410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:133262811..133266033hg19UCSC Ensembl
Outerchr12:131772884..131776106hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv624883
Samples1
Known GenesPOLE, PXMP2
MethodSNP_array
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformIllumina Genome Analyzer
Comments
ReferenceArlt et al 2011
Pubmed ID21212237
Accession Number(s)nsv512304
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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