A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575486



Internal ID21523915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28939055..28939164hg38UCSC Ensembl
chr2:29161921..29162030hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112887
SamplesHG03683
Known GenesWDR43
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575486
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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