A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13453



Internal ID15833369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68507752..68508450hg38UCSC Ensembl
Outerchr4:68507471..68509039hg38UCSC Ensembl
Innerchr4:69373470..69374168hg19UCSC Ensembl
Outerchr4:69373189..69374757hg19UCSC Ensembl
Innerchr4:69056065..69056763hg18UCSC Ensembl
Outerchr4:69055784..69057352hg18UCSC Ensembl
Innerchr4:69202236..69202934hg17UCSC Ensembl
Outerchr4:69201955..69203523hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381569
hg191569
hg181569
hg171569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA18504
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)nssv13453
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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