A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16867



Internal ID15483621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7302289..7302307hg38UCSC Ensembl
Outerchr8:7301728..7302739hg38UCSC Ensembl
Innerchr8:7159811..7159829hg19UCSC Ensembl
Outerchr8:7159250..7160261hg19UCSC Ensembl
Innerchr8:7147221..7147239hg18UCSC Ensembl
Outerchr8:7146660..7147671hg18UCSC Ensembl
Innerchr8:7147221..7147239hg17UCSC Ensembl
Outerchr8:7146660..7147671hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381012
hg191012
hg181012
hg171012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA11830
Known GenesFAM66B
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)nssv16867
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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