A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819608



Internal ID15584309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46416208..46443112hg38UCSC Ensembl
Innerchr21:47836122..47863025hg19UCSC Ensembl
Innerchr21:46660550..46687453hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3826905
hg1926904
hg1826904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418834
SamplesAK1
Known GenesPCNT
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.
PlatformGPL6985
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819608
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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