A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419394



Internal ID15236448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120500417..120502559hg38UCSC Ensembl
Innerchr8:121512657..121514799hg19UCSC Ensembl
Innerchr8:121581838..121583980hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg382143
hg192143
hg182143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819372
Supporting Variants
SamplesAK1
Known GenesMTBP
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)nssv1419394
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