A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22147



Internal ID15829881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19640585..19812906hg38UCSC Ensembl
Outerchr14:19639095..19813300hg38UCSC Ensembl
Innerchr14:20108819..20281065hg19UCSC Ensembl
Outerchr14:20107329..20281459hg19UCSC Ensembl
Innerchr14:19178584..19350905hg18UCSC Ensembl
Outerchr14:19177094..19351299hg18UCSC Ensembl
Innerchr14:19178584..19350905hg17UCSC Ensembl
Outerchr14:19177094..19351299hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38174206
hg19174131
hg18174206
hg17174206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA11830
Known GenesOR11H2, OR4M1, OR4Q3
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)nssv22147
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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