A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv659224



Internal ID15395876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19873352..19885834hg38UCSC Ensembl
Innerchr22:19860875..19873357hg19UCSC Ensembl
Innerchr22:18240875..18253357hg18UCSC Ensembl
Innerchr22:18235429..18247911hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3812483
hg1912483
hg1812483
hg1712483
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515664
Supporting Variants
Samples
Known GenesTXNRD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv659224
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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