A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643055



Internal ID21591360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25315130..25315130hg38UCSC Ensembl
chr8:25172646..25172646hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147296
SamplesHG00731
Known GenesDOCK5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643055
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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