A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989648



Internal ID21898991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39773558..39773610hg38UCSC Ensembl
chr2:40000698..40000750hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535361
Samples
Known GenesTHUMPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989648
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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