A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819130



Internal ID15237095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177628992..177629449hg38UCSC Ensembl
Innerchr2:178493720..178494177hg19UCSC Ensembl
Innerchr2:178201966..178202423hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38458
hg19458
hg18458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418962
SamplesAK1
Known GenesPDE11A
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819130
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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