A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29228



Internal ID15832029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68507752..68626403hg38UCSC Ensembl
Outerchr4:68507471..68626728hg38UCSC Ensembl
Innerchr4:69373470..69492121hg19UCSC Ensembl
Outerchr4:69373189..69492446hg19UCSC Ensembl
Innerchr4:69056065..69174716hg18UCSC Ensembl
Outerchr4:69055784..69175041hg18UCSC Ensembl
Innerchr4:69202236..69320887hg17UCSC Ensembl
Outerchr4:69201955..69321212hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38119258
hg19119258
hg18119258
hg17119258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA12872
Known GenesUGT2B17
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)nssv29228
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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