A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819353



Internal ID15584054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125085087..125092187hg38UCSC Ensembl
Innerchr3:124803931..124811031hg19UCSC Ensembl
Innerchr3:126286621..126293721hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg387101
hg197101
hg187101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419805
SamplesAK1
Known GenesSLC12A8
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)nsv819353
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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