A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962072



Internal ID22737013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41450195..41454804hg38UCSC Ensembl
chr22:41846199..41850808hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384610
hg194610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401309
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962072
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