A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16502



Internal ID15480893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5973783..5974731hg38UCSC Ensembl
Outerchr8:5972142..5975493hg38UCSC Ensembl
Innerchr8:5831305..5832253hg19UCSC Ensembl
Outerchr8:5829664..5833015hg19UCSC Ensembl
Innerchr8:5818713..5819661hg18UCSC Ensembl
Outerchr8:5817072..5820423hg18UCSC Ensembl
Innerchr8:5818713..5819661hg17UCSC Ensembl
Outerchr8:5817072..5820423hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383352
hg193352
hg183352
hg173352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA07029
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)nssv16502
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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