A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124251



Internal ID21411454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36126567..36126567hg38UCSC Ensembl
chr22:36522615..36522615hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666690
Supporting Variants
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124251
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