A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513403



Internal ID15506139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113424269..113424686hg38UCSC Ensembl
Outerchr13:114078584..114079001hg19UCSC Ensembl
Outerchr13:113126585..113127002hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38909
hg19909
hg18909
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625801
Samples1
Known GenesADPRHL1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513403
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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