A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17317



Internal ID15483593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16877767..16879428hg38UCSC Ensembl
Outerchr8:16871090..16880154hg38UCSC Ensembl
Innerchr8:16735276..16736937hg19UCSC Ensembl
Outerchr8:16728599..16737663hg19UCSC Ensembl
Innerchr8:16779647..16781308hg18UCSC Ensembl
Outerchr8:16772970..16782034hg18UCSC Ensembl
Innerchr8:16779647..16781308hg17UCSC Ensembl
Outerchr8:16772970..16782034hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg389065
hg199065
hg189065
hg179065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8304
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)nssv17317
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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