A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5672488



Internal ID21620793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42878858..42878858hg38UCSC Ensembl
chr22:43274864..43274864hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17126028
SamplesHG02818
Known GenesPACSIN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5672488
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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