A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16272878



Internal ID20482096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200773357..200773357hg38UCSC Ensembl
chr2:201638080..201638080hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4767283
Supporting Variants
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16272878
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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