A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13184



Internal ID15487757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67924355..68142524hg38UCSC Ensembl
Outerchr4:67923797..68150168hg38UCSC Ensembl
Innerchr4:68790073..69008242hg19UCSC Ensembl
Outerchr4:68789515..69015886hg19UCSC Ensembl
Innerchr4:68472668..68690837hg18UCSC Ensembl
Outerchr4:68472110..68698481hg18UCSC Ensembl
Innerchr4:68618839..68837008hg17UCSC Ensembl
Outerchr4:68618281..68844652hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38226372
hg19226372
hg18226372
hg17226372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10514
Supporting Variants
SamplesNA18517
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
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)nssv13184
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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