A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569288



Internal ID21517644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18389029..18389108hg38UCSC Ensembl
chr2:18570295..18570374hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110773
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569288
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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