A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548097



Internal ID15558402
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 Number2
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471372
Supporting Variants
SamplesYH
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)nssv548097
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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