A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987843



Internal ID21897186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202534908..202534994hg38UCSC Ensembl
chr2:203399631..203399717hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534742
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987843
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