A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467



Internal ID15830269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39429352..39429609hg38UCSC Ensembl
Outerchr8:39428989..39442027hg38UCSC Ensembl
Innerchr8:39286871..39287128hg19UCSC Ensembl
Outerchr8:39286508..39299546hg19UCSC Ensembl
Innerchr8:39406028..39406285hg18UCSC Ensembl
Outerchr8:39405665..39418703hg18UCSC Ensembl
Innerchr8:39406028..39406285hg17UCSC Ensembl
Outerchr8:39405665..39418703hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3813039
hg1913039
hg1813039
hg1713039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8331
Supporting Variants
SamplesNA11830
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)nssv17467
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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