A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510008



Internal ID286640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128890819..128892878hg38UCSC Ensembl
chr11:128760714..128762773hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382060
hg192060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051682
Samples
Known GenesKCNJ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510008
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