A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821675



Internal ID16410736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99790630..99832042hg38UCSC Ensembl
Innerchr13:100442884..100484296hg19UCSC Ensembl
Innerchr13:99240885..99282297hg18UCSC Ensembl
Innerchr13:99240885..99282297hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3841413
hg1941413
hg1841413
hg1741413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421251
Samples
Known GenesCLYBL
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)nsv821675
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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