A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419436



Internal ID15583220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177283403..177283549hg38UCSC Ensembl
Innerchr2:178148131..178148277hg19UCSC Ensembl
Innerchr2:177856377..177856523hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38147
hg19147
hg18147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819635
Supporting Variants
SamplesAK1
Known GenesLOC100130691
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)nssv1419436
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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