A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546971



Internal ID320867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34930412..34930483hg38UCSC Ensembl
chr22:35326401..35326472hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728681
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546971
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