A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418834



Internal ID15582618
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819608
Supporting Variants
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)nssv1418834
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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