A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24801



Internal ID15497224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:776338..834514hg38UCSC Ensembl
Outerchr11:775539..835248hg38UCSC Ensembl
Innerchr11:776338..834514hg19UCSC Ensembl
Outerchr11:775539..835248hg19UCSC Ensembl
Innerchr11:766338..824514hg18UCSC Ensembl
Outerchr11:765539..825248hg18UCSC Ensembl
Innerchr11:766338..824514hg17UCSC Ensembl
Outerchr11:765539..825248hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3859710
hg1959710
hg1859710
hg1759710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8759
Supporting Variants
SamplesNA19221
Known GenesCD151, CEND1, EFCAB4A, NS3BP, PDDC1, PIDD, PNPLA2, RPLP2, SLC25A22, SNORA52
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)nssv24801
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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