A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471372



Internal ID15558538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:19920607..19921576hg38UCSC Ensembl
Outerchr14:20388766..20389735hg19UCSC Ensembl
Outerchr14:19458606..19459575hg18UCSC Ensembl
Outerchr14:19458606..19459575hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38970
hg19970
hg18970
hg17970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548096, nssv548097
SamplesNA18507, YH
Known GenesOR4K5
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsOR4K5
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471372
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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