A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419284



Internal ID15236338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55955670..55957237hg38UCSC Ensembl
Innerchr12:56349454..56351021hg19UCSC Ensembl
Innerchr12:54635721..54637288hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381568
hg191568
hg181568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819836
Supporting Variants
SamplesAK1
Known GenesPMEL
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)nssv1419284
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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