A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819514



Internal ID15584215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219968663..219968786hg38UCSC Ensembl
Innerchr1:220142005..220142128hg19UCSC Ensembl
Innerchr1:218208628..218208751hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418547
SamplesAK1
Known GenesEPRS, RNU5F-1
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)nsv819514
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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