A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962997



Internal ID22737933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24438480..24438553hg38UCSC Ensembl
chr22:24834448..24834521hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399696
Samples
Known GenesADORA2A, ADORA2A-AS1, SPECC1L-ADORA2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962997
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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