A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16665



Internal ID15488032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:137719..137719hg38UCSC Ensembl
Outerchr8:136612..137784hg38UCSC Ensembl
Innerchr8:87719..87719hg19UCSC Ensembl
Outerchr8:86612..87784hg19UCSC Ensembl
Innerchr8:77719..77719hg18UCSC Ensembl
Outerchr8:76612..77784hg18UCSC Ensembl
Innerchr8:77719..77719hg17UCSC Ensembl
Outerchr8:76612..77784hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381173
hg191173
hg181173
hg171173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8253
Supporting Variants
SamplesNA18537
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)nssv16665
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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