A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419327



Internal ID15583111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7601016..7602798hg38UCSC Ensembl
Innerchr6:7601249..7603031hg19UCSC Ensembl
Innerchr6:7546248..7548030hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381783
hg191783
hg181783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819694
Supporting Variants
SamplesAK1
Known GenesSNRNP48
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)nssv1419327
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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