A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419431



Internal ID15236485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49697963..49700417hg38UCSC Ensembl
Innerchr13:50272099..50274553hg19UCSC Ensembl
Innerchr13:49170100..49172554hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382455
hg192455
hg182455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819200
Supporting Variants
SamplesAK1
Known GenesKPNA3
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)nssv1419431
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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