A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29236



Internal ID15837168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69283299..69371989hg38UCSC Ensembl
Outerchr4:69282897..69372457hg38UCSC Ensembl
Innerchr4:70149017..70237707hg19UCSC Ensembl
Outerchr4:70148615..70238175hg19UCSC Ensembl
Innerchr4:70183606..70272296hg18UCSC Ensembl
Outerchr4:70183204..70272764hg18UCSC Ensembl
Innerchr4:70329777..70418467hg17UCSC Ensembl
Outerchr4:70329375..70418935hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3889561
hg1989561
hg1889561
hg1789561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA18572
Known GenesUGT2B28
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)nssv29236
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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