A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8896



Internal ID15500122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6536085..6538081hg38UCSC Ensembl
Outerchr12:6645251..6647247hg19UCSC Ensembl
Outerchr12:6515512..6517508hg18UCSC Ensembl
Outerchr12:6515512..6517508hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381997
hg191997
hg181997
hg171997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23477
SamplesNA19132
Known GenesGAPDH
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)nsv8896
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