A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384



Internal ID15487820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:397314..398444hg38UCSC Ensembl
Outerchr5:396673..399038hg38UCSC Ensembl
Innerchr5:397429..398559hg19UCSC Ensembl
Outerchr5:396788..399153hg19UCSC Ensembl
Innerchr5:450429..451559hg18UCSC Ensembl
Outerchr5:449788..452153hg18UCSC Ensembl
Innerchr5:450429..451559hg17UCSC Ensembl
Outerchr5:449788..452153hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382366
hg192366
hg182366
hg172366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10646
Supporting Variants
SamplesNA18517
Known GenesAHRR
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)nssv14384
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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