A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1421216



Internal ID16063789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118069823..118299944hg38UCSC Ensembl
Innerchr8:119082062..119312183hg19UCSC Ensembl
Innerchr8:119151243..119381364hg18UCSC Ensembl
Innerchr8:119151243..119381364hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38230122
hg19230122
hg18230122
hg17230122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821660
Supporting Variants
Samples
Known GenesEXT1, SAMD12
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)nssv1421216
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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