A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17678



Internal ID15483842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4907194..4907912hg38UCSC Ensembl
Outerchr8:4906166..4910070hg38UCSC Ensembl
Innerchr8:4764716..4765434hg19UCSC Ensembl
Outerchr8:4763688..4767592hg19UCSC Ensembl
Innerchr8:4752124..4752842hg18UCSC Ensembl
Outerchr8:4751096..4755000hg18UCSC Ensembl
Innerchr8:4752124..4752842hg17UCSC Ensembl
Outerchr8:4751096..4755000hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383905
hg193905
hg183905
hg173905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA12155
Known GenesCSMD1
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)nssv17678
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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