A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819259



Internal ID15237224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1401518..1510110hg38UCSC Ensembl
Innerchr16:1451519..1560111hg19UCSC Ensembl
Innerchr16:1391520..1500112hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38108593
hg19108593
hg18108593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418852
SamplesAK1
Known GenesC16orf91, CCDC154, CLCN7, PTX4, TELO2, UNKL
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)nsv819259
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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