A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12669



Internal ID15831167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131723507..131763271hg38UCSC Ensembl
Outerchr4:131723130..131765849hg38UCSC Ensembl
Innerchr4:132644662..132684426hg19UCSC Ensembl
Outerchr4:132644285..132687004hg19UCSC Ensembl
Innerchr4:132864112..132903876hg18UCSC Ensembl
Outerchr4:132863735..132906454hg18UCSC Ensembl
Innerchr4:133002267..133042031hg17UCSC Ensembl
Outerchr4:133001890..133044609hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3842720
hg1942720
hg1842720
hg1742720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
Supporting Variants
SamplesNA12740
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)nssv12669
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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