A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489207



Internal ID266495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122966789..122970169hg38UCSC Ensembl
chr9:125729068..125732448hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383381
hg193381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027139
Samples
Known GenesRABGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489207
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