A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18943



Internal ID15486644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4305857..4307190hg38UCSC Ensembl
Outerchr8:4304839..4307791hg38UCSC Ensembl
Innerchr8:4163379..4164712hg19UCSC Ensembl
Outerchr8:4162361..4165313hg19UCSC Ensembl
Innerchr8:4150787..4152120hg18UCSC Ensembl
Outerchr8:4149769..4152721hg18UCSC Ensembl
Innerchr8:4150787..4152120hg17UCSC Ensembl
Outerchr8:4149769..4152721hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382953
hg192953
hg182953
hg172953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18504
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)nssv18943
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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