A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513379



Internal ID15852801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132742435..132743128hg38UCSC Ensembl
Outerchr12:133319021..133319714hg19UCSC Ensembl
Outerchr12:131829094..131829787hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38981
hg19981
hg18981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625773
Samples1
Known GenesANKLE2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513379
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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