A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422020



Internal ID201076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120372648..120372699hg38UCSC Ensembl
chr11:120243357..120243408hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050466
Samples
Known GenesARHGEF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422020
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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