A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17879



Internal ID15496358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12602744..12603894hg38UCSC Ensembl
Outerchr8:12602718..12603939hg38UCSC Ensembl
Innerchr8:12460253..12461403hg19UCSC Ensembl
Outerchr8:12460227..12461448hg19UCSC Ensembl
Innerchr8:12504624..12505774hg18UCSC Ensembl
Outerchr8:12504598..12505819hg18UCSC Ensembl
Innerchr8:12504624..12505774hg17UCSC Ensembl
Outerchr8:12504598..12505819hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381222
hg191222
hg181222
hg171222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19173
Known GenesLOC729732
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)nssv17879
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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