A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965768



Internal ID22740703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49942708..49942847hg38UCSC Ensembl
chr22:50336356..50336495hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394167
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965768
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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