A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820140



Internal ID15238105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56595890..56596261hg38UCSC Ensembl
Innerchr12:56989674..56990045hg19UCSC Ensembl
Innerchr12:55275941..55276312hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38372
hg19372
hg18372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418924
SamplesAK1
Known GenesBAZ2A, RBMS2
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)nsv820140
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer