A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821657



Internal ID16064032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12195888..12647362hg38UCSC Ensembl
Innerchr8:12053397..12504871hg19UCSC Ensembl
Innerchr8:12090806..12549242hg18UCSC Ensembl
Innerchr8:12090806..12549242hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38451475
hg19451475
hg18458437
hg17458437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421212
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, LOC100506990, LOC649352, LOC729732
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)nsv821657
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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