A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988639



Internal ID21897982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27648036..27648932hg38UCSC Ensembl
chr2:27870903..27871799hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526522
Samples
Known GenesGPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988639
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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