A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819450



Internal ID15584151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180950385..180991211hg38UCSC Ensembl
Innerchr5:180377385..180418211hg19UCSC Ensembl
Innerchr5:180309991..180350817hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3840827
hg1940827
hg1840827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418871
SamplesAK1
Known GenesBTNL3, BTNL8
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)nsv819450
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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