A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23251



Internal ID15495057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90054970..90104344hg38UCSC Ensembl
Outerchr11:90054376..90104895hg38UCSC Ensembl
Innerchr11:89788138..89837512hg19UCSC Ensembl
Outerchr11:89787544..89838063hg19UCSC Ensembl
Innerchr11:89427786..89477160hg18UCSC Ensembl
Outerchr11:89427192..89477711hg18UCSC Ensembl
Innerchr11:89427786..89477160hg17UCSC Ensembl
Outerchr11:89427192..89477711hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3850520
hg1950520
hg1850520
hg1750520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8859
Supporting Variants
SamplesNA19132
Known GenesUBTFL1
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)nssv23251
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer