A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708



Internal ID15483820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5686680..5687562hg38UCSC Ensembl
Outerchr8:5686219..5688904hg38UCSC Ensembl
Innerchr8:5544202..5545084hg19UCSC Ensembl
Outerchr8:5543741..5546426hg19UCSC Ensembl
Innerchr8:5531610..5532492hg18UCSC Ensembl
Outerchr8:5531149..5533834hg18UCSC Ensembl
Innerchr8:5531610..5532492hg17UCSC Ensembl
Outerchr8:5531149..5533834hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382686
hg192686
hg182686
hg172686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA12155
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)nssv17708
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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