A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522295



Internal ID15449588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:156846470..156856286hg38UCSC Ensembl
Innerchr5:156273481..156283297hg19UCSC Ensembl
Innerchr5:156206059..156215875hg18UCSC Ensembl
Innerchr5:156206059..156215875hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg389817
hg199817
hg189817
hg179817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694153
Samples
Known GenesPPP1R2P3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522295
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