A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20788



Internal ID15842362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4354558..4356430hg38UCSC Ensembl
Outerchr11:4347120..4366038hg38UCSC Ensembl
Innerchr11:4375788..4377660hg19UCSC Ensembl
Outerchr11:4368350..4387268hg19UCSC Ensembl
Innerchr11:4332364..4334236hg18UCSC Ensembl
Outerchr11:4324926..4343844hg18UCSC Ensembl
Innerchr11:4332364..4334236hg17UCSC Ensembl
Outerchr11:4324926..4343844hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3818919
hg1918919
hg1818919
hg1718919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8777
Supporting Variants
SamplesNA19144
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)nssv20788
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