A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12361



Internal ID15844839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:28943343..28950985hg38UCSC Ensembl
Outerchr4:28941686..28952026hg38UCSC Ensembl
Innerchr4:28944965..28952607hg19UCSC Ensembl
Outerchr4:28943308..28953648hg19UCSC Ensembl
Innerchr4:28554063..28561705hg18UCSC Ensembl
Outerchr4:28552406..28562746hg18UCSC Ensembl
Innerchr4:28621234..28628876hg17UCSC Ensembl
Outerchr4:28619577..28629917hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3810341
hg1910341
hg1810341
hg1710341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10470
Supporting Variants
SamplesNA19240
Known Genes
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)nssv12361
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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