A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125054



Internal ID21458845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29699882..29699882hg38UCSC Ensembl
chr22:30095871..30095871hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381562
hg191562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665328
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125054
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