A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994726



Internal ID21904069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81503357..81503419hg38UCSC Ensembl
chr3:81552508..81552570hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17545343
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994726
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