A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552456



Internal ID325808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32603459..32604945hg38UCSC Ensembl
chr22:32999445..33000931hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728556
Samples
Known GenesSYN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552456
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