A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20310



Internal ID15497522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4626052..4626974hg38UCSC Ensembl
Outerchr8:4625485..4627599hg38UCSC Ensembl
Innerchr8:4483574..4484496hg19UCSC Ensembl
Outerchr8:4483007..4485121hg19UCSC Ensembl
Innerchr8:4470982..4471904hg18UCSC Ensembl
Outerchr8:4470415..4472529hg18UCSC Ensembl
Innerchr8:4470982..4471904hg17UCSC Ensembl
Outerchr8:4470415..4472529hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382115
hg192115
hg182115
hg172115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19221
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)nssv20310
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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