A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4008055



Internal ID22069686
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154894
Supporting Variants
Samples
Known GenesDNAJC15, EPSTI1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4008055
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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