A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28039



Internal ID15487825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12832272..12874525hg38UCSC Ensembl
Outerchr1:12831630..12876204hg38UCSC Ensembl
Innerchr1:12892126..12934346hg19UCSC Ensembl
Outerchr1:12891484..12936025hg19UCSC Ensembl
Innerchr1:12814713..12856933hg18UCSC Ensembl
Outerchr1:12814071..12858612hg18UCSC Ensembl
Innerchr1:12826392..12868612hg17UCSC Ensembl
Outerchr1:12825750..12870291hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3844575
hg1944542
hg1844542
hg1744542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18517
Known GenesHNRNPCL1, LOC649330, PRAMEF2
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)nssv28039
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