A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821682



Internal ID16064057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34402386..34572877hg38UCSC Ensembl
Innerchr15:34694587..34865078hg19UCSC Ensembl
Innerchr15:32481879..32652370hg18UCSC Ensembl
Innerchr15:32481879..32652370hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38170492
hg19170492
hg18170492
hg17170492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421311, nssv1421314, nssv1421312
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)nsv821682
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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