A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22058



Internal ID15830666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19780824..19932247hg19UCSC Ensembl
Outerchr14:19780172..19932499hg19UCSC Ensembl
Innerchr14:18850824..19002247hg18UCSC Ensembl
Outerchr14:18850172..19002499hg18UCSC Ensembl
Innerchr14:18850824..19002247hg17UCSC Ensembl
Outerchr14:18850172..19002499hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg19152328
hg18152328
hg17152328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA12155
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)nssv22058
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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