A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23208



Internal ID15833017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8194213..8210254hg38UCSC Ensembl
Outerchr12:8189841..8210829hg38UCSC Ensembl
Innerchr12:8346809..8362850hg19UCSC Ensembl
Outerchr12:8342437..8363425hg19UCSC Ensembl
Innerchr12:8238076..8254117hg18UCSC Ensembl
Outerchr12:8233704..8254692hg18UCSC Ensembl
Innerchr12:8238076..8254117hg17UCSC Ensembl
Outerchr12:8233704..8254692hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3820989
hg1920989
hg1820989
hg1720989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8899
Supporting Variants
SamplesNA18502
Known GenesFAM66C
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)nssv23208
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