A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17527447



Internal ID21851804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127848919..127849010hg38UCSC Ensembl
chr2:128606493..128606584hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5985757
Supporting Variants
Samples
Known GenesPOLR2D
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17527447
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