A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418921



Internal ID15235975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181678000..181678370hg38UCSC Ensembl
Innerchr2:182542727..182543097hg19UCSC Ensembl
Innerchr2:182250972..182251342hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38371
hg19371
hg18371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820203
Supporting Variants
SamplesAK1
Known GenesNEUROD1
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)nssv1418921
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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