A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821681



Internal ID16064056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32177832..32510142hg38UCSC Ensembl
Innerchr15:32470033..32802343hg19UCSC Ensembl
Innerchr15:30257325..30589635hg18UCSC Ensembl
Innerchr15:30257325..30589635hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38332311
hg19332311
hg18332311
hg17332311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421310
Samples
Known GenesGOLGA8K, GOLGA8O, ULK4P1, ULK4P2, ULK4P3
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)nsv821681
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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