A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922858



Internal ID15994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200774447..200774643hg38UCSC Ensembl
chr2:201639170..201639366hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449216
Supporting Variants
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922858
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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