A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535561



Internal ID311181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31634615..31635028hg38UCSC Ensembl
chr22:32030601..32031014hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728503
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535561
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