A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130289



Internal ID21415892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32931818..32931818hg38UCSC Ensembl
chr22:33327803..33327803hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5671373
Supporting Variants
SamplesHG00731
Known GenesSYN3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130289
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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