A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv826363



Internal ID6139403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49177227..49250989hg19UCSC Ensembl
Innerchr12:47463494..47537256hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1439203
SamplesNA18973
Known GenesADCY6, CACNB3, DDX23, RND1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv826363
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