A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2793290



Internal ID21238628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112539839..112539839hg38UCSC Ensembl
chr13:113194153..113194153hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13691746
Samples
Known GenesTUBGCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2793290
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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