A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19574



Internal ID15833915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:405949..406376hg38UCSC Ensembl
Outerchr8:405046..406440hg38UCSC Ensembl
Innerchr8:355949..356376hg19UCSC Ensembl
Outerchr8:355046..356440hg19UCSC Ensembl
Innerchr8:345949..346376hg18UCSC Ensembl
Outerchr8:345046..346440hg18UCSC Ensembl
Innerchr8:345949..346376hg17UCSC Ensembl
Outerchr8:345046..346440hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381395
hg191395
hg181395
hg171395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8257
Supporting Variants
SamplesNA18517
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)nssv19574
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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