A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2793482



Internal ID21238820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49468615..49468615hg38UCSC Ensembl
chr13:50042751..50042751hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13689897
Samples
Known GenesSETDB2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2793482
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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