A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819248



Internal ID15583949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:200388408..200389286hg38UCSC Ensembl
Innerchr2:201253131..201254009hg19UCSC Ensembl
Innerchr2:200961376..200962254hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38879
hg19879
hg18879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419106
SamplesAK1
Known GenesSPATS2L
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)nsv819248
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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