A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820147



Internal ID15584848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:22055329..22867004hg38UCSC Ensembl
Innerchr2:22278201..23089876hg19UCSC Ensembl
Innerchr2:22131706..22943381hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38811676
hg19811676
hg18811676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4n43
Supporting Variantsnssv1418862
SamplesAK1
Known Genes
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)nsv820147
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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