A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16266274



Internal ID20475492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127750649..127750718hg38UCSC Ensembl
chr2:128508223..128508292hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4740434
Supporting Variants
Samples
Known GenesWDR33
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16266274
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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