A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518045



Internal ID15098652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101836570..101841043hg38UCSC Ensembl
Innerchr14:102302907..102307380hg19UCSC Ensembl
Innerchr14:101372660..101377133hg18UCSC Ensembl
Innerchr14:101372660..101377133hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg384474
hg194474
hg184474
hg174474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695456
Samples
Known GenesPPP2R5C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518045
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