A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv826384



Internal ID6139424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58124758..58157850hg19UCSC Ensembl
Innerchr12:56411025..56444117hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1439208
SamplesNA18973
Known GenesAGAP2, CDK4, CYP27B1, MARCH9, TSPAN31
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv826384
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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