A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21198



Internal ID15836498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19154743..19154745hg38UCSC Ensembl
Outerchr14:19154079..19155623hg38UCSC Ensembl
Innerchr14:19742452..19742454hg19UCSC Ensembl
Outerchr14:19741788..19743332hg19UCSC Ensembl
Innerchr14:18812452..18812454hg18UCSC Ensembl
Outerchr14:18811788..18813332hg18UCSC Ensembl
Innerchr14:18812452..18812454hg17UCSC Ensembl
Outerchr14:18811788..18813332hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381545
hg191545
hg181545
hg171545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18564
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv21198
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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