A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15011



Internal ID15485767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:73540..92228hg38UCSC Ensembl
Outerchr8:72957..92523hg38UCSC Ensembl
Innerchr8:23540..42228hg19UCSC Ensembl
Outerchr8:22957..42523hg19UCSC Ensembl
Innerchr8:13540..32228hg18UCSC Ensembl
Outerchr8:12957..32523hg18UCSC Ensembl
Innerchr8:13540..32228hg17UCSC Ensembl
Outerchr8:12957..32523hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3819567
hg1919567
hg1819567
hg1719567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8253
Supporting Variants
SamplesNA12872
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)nssv15011
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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