A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19391



Internal ID15832411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19277958..19336297hg38UCSC Ensembl
Outerchr14:19277300..19337507hg38UCSC Ensembl
Innerchr14:19865670..19923957hg19UCSC Ensembl
Outerchr14:19865011..19925167hg19UCSC Ensembl
Innerchr14:18935670..18993957hg18UCSC Ensembl
Outerchr14:18935011..18995167hg18UCSC Ensembl
Innerchr14:18935670..18993957hg17UCSC Ensembl
Outerchr14:18935011..18995167hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3860208
hg1960157
hg1860157
hg1760157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA12872
Known GenesBMS1P17, BMS1P18
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)nssv19391
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