A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819700



Internal ID15237665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:136180177..136181396hg38UCSC Ensembl
Innerchr5:135515865..135517084hg19UCSC Ensembl
Innerchr5:135543764..135544983hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381220
hg191220
hg181220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419202
SamplesAK1
Known GenesSMAD5
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)nsv819700
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