A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137054



Internal ID21410072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47590123..47590123hg38UCSC Ensembl
chr22:47985872..47985872hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5667065
Supporting Variants
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137054
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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