A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451065



Internal ID229252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26222720..26224786hg38UCSC Ensembl
chr2:26445588..26447654hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382067
hg192067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911281
Samples
Known GenesHADHA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451065
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