A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8189



Internal ID15846101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102038215..102041985hg38UCSC Ensembl
Outerchr7:101681495..101685265hg19UCSC Ensembl
Outerchr7:101468215..101471985hg18UCSC Ensembl
Outerchr7:101274930..101278700hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383771
hg193771
hg183771
hg173771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16469
SamplesNA19173
Known GenesCUX1
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)nsv8189
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