A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513394



Internal ID15506130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98472813..98473312hg38UCSC Ensembl
Outerchr13:99125067..99125566hg19UCSC Ensembl
Outerchr13:97923068..97923567hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625790
Samples1
Known GenesSTK24
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513394
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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