A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819188



Internal ID15237153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88672556..88694874hg38UCSC Ensembl
Innerchr16:88738964..88761282hg19UCSC Ensembl
Innerchr16:87266465..87288783hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3822319
hg1922319
hg1822319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418850
SamplesAK1
Known GenesSNAI3, SNAI3-AS1
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)nsv819188
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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