A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419135



Internal ID15236189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178431324..178432287hg38UCSC Ensembl
Innerchr2:179296051..179297014hg19UCSC Ensembl
Innerchr2:179004297..179005260hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38964
hg19964
hg18964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820287
Supporting Variants
SamplesAK1
Known GenesMIR548N, PRKRA
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)nssv1419135
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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