A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20162



Internal ID15827392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18688360..18694057hg38UCSC Ensembl
Outerchr14:18685872..18695142hg38UCSC Ensembl
Innerchr14:19464837..19470534hg19UCSC Ensembl
Outerchr14:19462349..19471619hg19UCSC Ensembl
Innerchr14:18534837..18540534hg18UCSC Ensembl
Outerchr14:18532349..18541619hg18UCSC Ensembl
Innerchr14:18534837..18540534hg17UCSC Ensembl
Outerchr14:18532349..18541619hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg389271
hg199271
hg189271
hg179271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA07029
Known Genes
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)nssv20162
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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