A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821683



Internal ID16410744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22615064..22752031hg38UCSC Ensembl
Innerchr16:22626385..22763352hg19UCSC Ensembl
Innerchr16:22533886..22670853hg18UCSC Ensembl
Innerchr16:22533886..22670853hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38136968
hg19136968
hg18136968
hg17136968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421316, nssv1421315
Samples
Known GenesMIR548AA2, MIR548D2
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)nsv821683
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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