A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819764



Internal ID8551454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55918034..55918219hg38UCSC Ensembl
Innerchr2:56145169..56145354hg19UCSC Ensembl
Innerchr2:55998673..55998858hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419070
SamplesAK1
Known GenesEFEMP1
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)nsv819764
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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