A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508679



Internal ID285366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128904280..128904332hg38UCSC Ensembl
chr11:128774175..128774227hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051684
Samples
Known GenesC11orf45, KCNJ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer