A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819313



Internal ID15584014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10564605..10648266hg38UCSC Ensembl
Innerchr21:10864191..10947852hg19UCSC Ensembl
Innerchr21:9886062..9969723hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3883662
hg1983662
hg1883662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418761
SamplesAK1
Known GenesTPTE
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)nsv819313
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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