A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18548



Internal ID15830929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144136569..144163122hg38UCSC Ensembl
Outerchr8:144133915..144163747hg38UCSC Ensembl
Innerchr8:145191472..145218025hg19UCSC Ensembl
Outerchr8:145188818..145218650hg19UCSC Ensembl
Innerchr8:145263460..145290013hg18UCSC Ensembl
Outerchr8:145260806..145290638hg18UCSC Ensembl
Innerchr8:145263460..145290013hg17UCSC Ensembl
Outerchr8:145260806..145290638hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3829833
hg1929833
hg1829833
hg1729833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8395
Supporting Variants
SamplesNA12155
Known GenesFAM203A, MROH1
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)nssv18548
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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