A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512304



Internal ID8819608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132686225..132689447hg38UCSC Ensembl
Outerchr12:133262811..133266033hg19UCSC Ensembl
Outerchr12:131772884..131776106hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383223
hg193223
hg183223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624883
Samples1
Known GenesPOLE, PXMP2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
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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