A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989808



Internal ID21899151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69653932..69658746hg38UCSC Ensembl
chr2:69881064..69885878hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384815
hg194815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537497
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989808
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer