A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21000



Internal ID15496808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16463827..16468132hg38UCSC Ensembl
Outerchr8:16462980..16469139hg38UCSC Ensembl
Innerchr8:16321336..16325641hg19UCSC Ensembl
Outerchr8:16320489..16326648hg19UCSC Ensembl
Innerchr8:16365707..16370012hg18UCSC Ensembl
Outerchr8:16364860..16371019hg18UCSC Ensembl
Innerchr8:16365707..16370012hg17UCSC Ensembl
Outerchr8:16364860..16371019hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg386160
hg196160
hg186160
hg176160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8304
Supporting Variants
SamplesNA19221
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)nssv21000
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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