A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821693



Internal ID16410754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22043260..22501417hg38UCSC Ensembl
Innerchr14:22511506..22970401hg19UCSC Ensembl
Innerchr14:21581346..22040241hg18UCSC Ensembl
Innerchr14:21581346..22040241hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38458158
hg19458896
hg18458896
hg17458896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421331
Samples
Known Genes
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)nsv821693
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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