A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12612



Internal ID15486437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44047..46640hg38UCSC Ensembl
Outerchr4:43383..51545hg38UCSC Ensembl
Innerchr4:44048..46636hg19UCSC Ensembl
Outerchr4:43384..51439hg19UCSC Ensembl
Innerchr4:34048..36636hg18UCSC Ensembl
Outerchr4:33384..41439hg18UCSC Ensembl
Innerchr4:34048..36636hg17UCSC Ensembl
Outerchr4:33384..41439hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388163
hg198056
hg188056
hg178056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10409
Supporting Variants
SamplesNA18502
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)nssv12612
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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