A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24506



Internal ID15842003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19487342hg38UCSC Ensembl
Outerchr14:19230949..19487830hg38UCSC Ensembl
Innerchr14:19786707..20073095hg19UCSC Ensembl
Outerchr14:19785875..20073584hg19UCSC Ensembl
Innerchr14:18856707..19143095hg18UCSC Ensembl
Outerchr14:18855875..19143584hg18UCSC Ensembl
Innerchr14:18856707..19143095hg17UCSC Ensembl
Outerchr14:18855875..19143584hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38256882
hg19287710
hg18287710
hg17287710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19132
Known GenesBMS1P17, BMS1P18, POTEM
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)nssv24506
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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