A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23040



Internal ID15834004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88894637..88912171hg38UCSC Ensembl
Outerchr11:88893608..88912580hg38UCSC Ensembl
Innerchr11:88627805..88645339hg19UCSC Ensembl
Outerchr11:88626776..88645748hg19UCSC Ensembl
Innerchr11:88267453..88284987hg18UCSC Ensembl
Outerchr11:88266424..88285396hg18UCSC Ensembl
Innerchr11:88267453..88284987hg17UCSC Ensembl
Outerchr11:88266424..88285396hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3818973
hg1918973
hg1818973
hg1718973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8853
Supporting Variants
SamplesNA18517
Known GenesGRM5
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)nssv23040
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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