A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418608



Internal ID15236995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54626536..54637911hg38UCSC Ensembl
Innerchr1:55092209..55103584hg19UCSC Ensembl
Innerchr1:54864797..54876172hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3811376
hg1911376
hg1811376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820219
Supporting Variants
SamplesAK1
Known GenesACOT11
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)nssv1418608
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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