A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819418



Internal ID15237383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189646635..189648974hg38UCSC Ensembl
Innerchr3:189364424..189366763hg19UCSC Ensembl
Innerchr3:190847118..190849457hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382340
hg192340
hg182340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418863
SamplesAK1
Known GenesTP63
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL8887
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819418
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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