A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418967



Internal ID15236021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54135203..54135673hg38UCSC Ensembl
Innerchr8:55047763..55048233hg19UCSC Ensembl
Innerchr8:55210316..55210786hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38471
hg19471
hg18471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820132
Supporting Variants
SamplesAK1
Known GenesMRPL15
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)nssv1418967
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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