A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042203



Internal ID21951524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80494682..80494682hg38UCSC Ensembl
chr2:80721807..80721807hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520109
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042203
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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