A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12914



Internal ID15834364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3868607..3870622hg38UCSC Ensembl
Outerchr4:3867791..3871336hg38UCSC Ensembl
Innerchr4:3870334..3872349hg19UCSC Ensembl
Outerchr4:3869518..3873063hg19UCSC Ensembl
Innerchr4:3840132..3842147hg18UCSC Ensembl
Outerchr4:3839316..3842861hg18UCSC Ensembl
Innerchr4:3907303..3909318hg17UCSC Ensembl
Outerchr4:3906487..3910032hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg383546
hg193546
hg183546
hg173546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10433
Supporting Variants
SamplesNA18517
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)nssv12914
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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