A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5639610



Internal ID21587915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67339795..67339795hg38UCSC Ensembl
chr8:68252030..68252030hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17159366
SamplesNA20509
Known GenesARFGEF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5639610
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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