A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528112



Internal ID15108719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45717390..45718959hg38UCSC Ensembl
Innerchr2:45944529..45946098hg19UCSC Ensembl
Innerchr2:45798033..45799602hg18UCSC Ensembl
Innerchr2:45856180..45857749hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381570
hg191570
hg181570
hg171570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704654
Samples
Known GenesPRKCE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528112
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