A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819630



Internal ID15237595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31399676..31401154hg38UCSC Ensembl
Innerchr5:31399783..31401261hg19UCSC Ensembl
Innerchr5:31435540..31437018hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381479
hg191479
hg181479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419273
SamplesAK1
Known GenesDROSHA
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)nsv819630
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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