A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12328



Internal ID15842821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:95839744..95895611hg38UCSC Ensembl
Outerchr4:95836420..96035143hg38UCSC Ensembl
Innerchr4:96760895..96816762hg19UCSC Ensembl
Outerchr4:96757571..96956294hg19UCSC Ensembl
Innerchr4:96979918..97035785hg18UCSC Ensembl
Outerchr4:96976594..97175317hg18UCSC Ensembl
Innerchr4:97118073..97173940hg17UCSC Ensembl
Outerchr4:97114749..97313472hg17UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38198724
hg19198724
hg18198724
hg17198724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10537
Supporting Variants
SamplesNA19144
Known GenesPDHA2
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)nssv12328
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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