A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819582



Internal ID15237547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75593869..75662434hg38UCSC Ensembl
Innerchr2:75820995..75889560hg19UCSC Ensembl
Innerchr2:75674503..75743068hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3868566
hg1968566
hg1868566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5n43
Supporting Variantsnssv1418754
SamplesAK1
Known GenesMRPL19
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)nsv819582
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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