A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17133152



Internal ID21456675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46902832..46902832hg38UCSC Ensembl
chr22:47298728..47298728hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665310
Supporting Variants
SamplesHG02587
Known GenesTBC1D22A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17133152
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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