A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16555



Internal ID15494093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4835881..4844343hg38UCSC Ensembl
Outerchr8:4835284..4844811hg38UCSC Ensembl
Innerchr8:4693403..4701865hg19UCSC Ensembl
Outerchr8:4692806..4702333hg19UCSC Ensembl
Innerchr8:4680811..4689273hg18UCSC Ensembl
Outerchr8:4680214..4689741hg18UCSC Ensembl
Innerchr8:4680811..4689273hg17UCSC Ensembl
Outerchr8:4680214..4689741hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg389528
hg199528
hg189528
hg179528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18980
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)nssv16555
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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