A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21913



Internal ID15833607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4340711..4344051hg38UCSC Ensembl
Outerchr11:4340666..4344340hg38UCSC Ensembl
Innerchr11:4361941..4365281hg19UCSC Ensembl
Outerchr11:4361896..4365570hg19UCSC Ensembl
Innerchr11:4318517..4321857hg18UCSC Ensembl
Outerchr11:4318472..4322146hg18UCSC Ensembl
Innerchr11:4318517..4321857hg17UCSC Ensembl
Outerchr11:4318472..4322146hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383675
hg193675
hg183675
hg173675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8777
Supporting Variants
SamplesNA18504
Known Genes
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)nssv21913
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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