A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988492



Internal ID21897835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237879482..237879545hg38UCSC Ensembl
chr2:238788124..238788187hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519897
Samples
Known GenesRAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988492
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