A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16682



Internal ID15480777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7871067..7878435hg38UCSC Ensembl
Outerchr8:7870645..7878642hg38UCSC Ensembl
Innerchr8:7728589..7735957hg19UCSC Ensembl
Outerchr8:7728167..7736164hg19UCSC Ensembl
Innerchr8:7765999..7773367hg18UCSC Ensembl
Outerchr8:7765577..7773574hg18UCSC Ensembl
Innerchr8:7765999..7773367hg17UCSC Ensembl
Outerchr8:7765577..7773574hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387998
hg197998
hg187998
hg177998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
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)nssv16682
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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