A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512339



Internal ID15851764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112194392..112197999hg38UCSC Ensembl
Outerchr13:112848706..112852313hg19UCSC Ensembl
Outerchr13:111896707..111900314hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383608
hg193608
hg183608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624922
Samples1
Known GenesLINC01070
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512339
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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