A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121902



Internal ID21440315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17753958..17753958hg38UCSC Ensembl
chr22:18236724..18236724hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665831
Supporting Variants
SamplesHG00732
Known GenesBID
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121902
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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