A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440350



Internal ID218859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203013876..203015548hg38UCSC Ensembl
chr2:203878599..203880271hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381673
hg191673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924351
Samples
Known GenesNBEAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440350
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