A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5631509



Internal ID21579814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79949154..79949154hg38UCSC Ensembl
chr8:80861389..80861389hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146800
SamplesNA18534
Known GenesMRPS28
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5631509
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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