A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21718



Internal ID15495628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11067182..11072954hg38UCSC Ensembl
Outerchr12:11066557..11075727hg38UCSC Ensembl
Innerchr12:11219781..11225553hg19UCSC Ensembl
Outerchr12:11219156..11228326hg19UCSC Ensembl
Innerchr12:11111048..11116820hg18UCSC Ensembl
Outerchr12:11110423..11119593hg18UCSC Ensembl
Innerchr12:11111048..11116820hg17UCSC Ensembl
Outerchr12:11110423..11119593hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg389171
hg199171
hg189171
hg179171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA19144
Known GenesPRH1-PRR4
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)nssv21718
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer