A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419530



Internal ID15236584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49066444..49069804hg38UCSC Ensembl
Innerchr12:49460227..49463587hg19UCSC Ensembl
Innerchr12:47746494..47749854hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383361
hg193361
hg183361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819798
Supporting Variants
SamplesAK1
Known GenesRHEBL1
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)nssv1419530
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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