A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821690



Internal ID16064065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:20770321..21203584hg38UCSC Ensembl
Innerchr21:22142639..22575903hg19UCSC Ensembl
Innerchr21:21064510..21497774hg18UCSC Ensembl
Innerchr21:21064510..21497774hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38433264
hg19433265
hg18433265
hg17433265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421328
Samples
Known GenesLINC00320, NCAM2
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)nsv821690
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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