A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5639507



Internal ID21587812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129619731..129619731hg38UCSC Ensembl
chr6:129940876..129940876hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157924
SamplesHG03065
Known GenesARHGAP18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5639507
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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