A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618183



Internal ID21566488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118042421..118042421hg38UCSC Ensembl
chr2:118799997..118799997hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108255
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618183
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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