A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418929



Internal ID15235983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104135470..104135852hg38UCSC Ensembl
Innerchr12:104529248..104529630hg19UCSC Ensembl
Innerchr12:103053378..103053760hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38383
hg19383
hg18383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819113
Supporting Variants
SamplesAK1
Known GenesNFYB
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)nssv1418929
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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