A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16276209



Internal ID20485427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35389370..35389370hg38UCSC Ensembl
chr22:35785363..35785363hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761642
Supporting Variants
Samples
Known GenesHMOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16276209
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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