A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154894



Internal ID22085399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42943379..43198975hg38UCSC Ensembl
Outerchr13:42939241..43201568hg38UCSC Ensembl
Innerchr13:43517515..43773111hg19UCSC Ensembl
Outerchr13:43513377..43775704hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38262328
hg19262328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4008055
Samples
Known GenesDNAJC15, EPSTI1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1154894
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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