A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443613



Internal ID222007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79535594..79546205hg38UCSC Ensembl
chr2:79762720..79773331hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3810612
hg1910612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915755
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443613
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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