A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11917



Internal ID15829828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68507752..68625756hg38UCSC Ensembl
Outerchr4:68507471..68626403hg38UCSC Ensembl
Innerchr4:69373470..69491474hg19UCSC Ensembl
Outerchr4:69373189..69492121hg19UCSC Ensembl
Innerchr4:69056065..69174069hg18UCSC Ensembl
Outerchr4:69055784..69174716hg18UCSC Ensembl
Innerchr4:69202236..69320240hg17UCSC Ensembl
Outerchr4:69201955..69320887hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38118933
hg19118933
hg18118933
hg17118933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA11830
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)nssv11917
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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