A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18691



Internal ID15844481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:48008251..48008976hg38UCSC Ensembl
Outerchr8:48004384..48009797hg38UCSC Ensembl
Innerchr8:48920811..48921536hg19UCSC Ensembl
Outerchr8:48916944..48922357hg19UCSC Ensembl
Innerchr8:49083364..49084089hg18UCSC Ensembl
Outerchr8:49079497..49084910hg18UCSC Ensembl
Innerchr8:49083364..49084089hg17UCSC Ensembl
Outerchr8:49079497..49084910hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg385414
hg195414
hg185414
hg175414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8338
Supporting Variants
SamplesNA19240
Known GenesUBE2V2
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)nssv18691
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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