A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625773



Internal ID15849306
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 StatusS
Merged Variantsnsv513379
Supporting Variants
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)nssv625773
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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