A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821640



Internal ID16064015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2319288..2412265hg38UCSC Ensembl
Innerchr5:2319402..2412379hg19UCSC Ensembl
Innerchr5:2372402..2465379hg18UCSC Ensembl
Innerchr5:2372402..2465379hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3892978
hg1992978
hg1892978
hg1792978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421387
Samples
Known Genes
MethodROMA
AnalysisMeasured intensities without background subtraction were used to calculate ratios. Data were normalized using an intensity-based lowess curve fitting algorithm similar to that described in Yang et al. Log ratio values obtained from color reversal experiments were averaged and displayed as presented in the figures. Copy number polymorphisms (CNPs) were identified based on probe ratios using a Hidden Markov Model.
PlatformA custom Nimblegen photoprint 85,000 probe ROMA oligo array platform was used.
Comments
ReferenceSebat_et_al_2004
Pubmed ID15273396
Accession Number(s)nsv821640
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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