A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16269213



Internal ID20478431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80354724..80354724hg38UCSC Ensembl
chr14:80821067..80821067hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4765530
Supporting Variants
Samples
Known GenesDIO2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16269213
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer