A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206836



Internal ID20773877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42088231..42090004hg38UCSC Ensembl
chr22:42484235..42486008hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381774
hg191774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6550240
Supporting Variants
Samples
Known GenesNDUFA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206836
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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