A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20174



Internal ID15487884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12545171..12546522hg38UCSC Ensembl
Outerchr8:12544098..12548849hg38UCSC Ensembl
Innerchr8:12402680..12404031hg19UCSC Ensembl
Outerchr8:12401607..12406358hg19UCSC Ensembl
Innerchr8:12447051..12448402hg18UCSC Ensembl
Outerchr8:12445978..12450729hg18UCSC Ensembl
Innerchr8:12447051..12448402hg17UCSC Ensembl
Outerchr8:12445978..12450729hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384752
hg194752
hg184752
hg174752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18517
Known GenesLOC100506990, LOC729732
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)nssv20174
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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