A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513383



Internal ID15852805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27063730..27063963hg38UCSC Ensembl
Outerchr13:27637867..27638100hg19UCSC Ensembl
Outerchr13:26535867..26536100hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38816
hg19816
hg18816
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625778
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513383
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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