A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434433



Internal ID213108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131136143..131137199hg38UCSC Ensembl
chr2:131893716..131894772hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919216
Samples
Known GenesPLEKHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434433
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