A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820123



Internal ID15238088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105037445..105039296hg38UCSC Ensembl
Innerchr2:105653903..105655754hg19UCSC Ensembl
Innerchr2:105020335..105022186hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381852
hg191852
hg181852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419341
SamplesAK1
Known GenesMRPS9
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)nsv820123
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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