A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13694317



Internal ID21216168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:66168160..66168160hg38UCSC Ensembl
chr3:66153835..66153835hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2809492
Supporting Variants
Samples
Known GenesSLC25A26
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13694317
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.5625


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