A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618678



Internal ID21566983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25372482..25372482hg38UCSC Ensembl
chr2:25595351..25595351hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112750
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618678
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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