A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5660129



Internal ID21608434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24282673..24282673hg38UCSC Ensembl
chr18:21862637..21862637hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101080
SamplesNA20509
Known GenesOSBPL1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5660129
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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