A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618555



Internal ID21566860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47838428..47838428hg38UCSC Ensembl
chr2:48065567..48065567hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113468
SamplesHG02587
Known GenesFBXO11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618555
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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