A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26680



Internal ID15496783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20874333..20875521hg38UCSC Ensembl
Outerchr14:20873744..20876092hg38UCSC Ensembl
Innerchr14:21342492..21343680hg19UCSC Ensembl
Outerchr14:21341903..21344251hg19UCSC Ensembl
Innerchr14:20412332..20413520hg18UCSC Ensembl
Outerchr14:20411743..20414091hg18UCSC Ensembl
Innerchr14:20412332..20413520hg17UCSC Ensembl
Outerchr14:20411743..20414091hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382349
hg192349
hg182349
hg172349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9121
Supporting Variants
SamplesNA19221
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)nssv26680
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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