A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12734



Internal ID15834318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:656239..656689hg38UCSC Ensembl
Outerchr4:655502..657389hg38UCSC Ensembl
Innerchr4:650028..650478hg19UCSC Ensembl
Outerchr4:649291..651178hg19UCSC Ensembl
Innerchr4:640028..640478hg18UCSC Ensembl
Outerchr4:639291..641178hg18UCSC Ensembl
Innerchr4:640028..640478hg17UCSC Ensembl
Outerchr4:639291..641178hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381888
hg191888
hg181888
hg171888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10412
Supporting Variants
SamplesNA18517
Known GenesPDE6B
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)nssv12734
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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