A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18883



Internal ID15486713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4040612..4041345hg38UCSC Ensembl
Outerchr8:4040159..4043628hg38UCSC Ensembl
Innerchr8:3898134..3898867hg19UCSC Ensembl
Outerchr8:3897681..3901150hg19UCSC Ensembl
Innerchr8:3885542..3886275hg18UCSC Ensembl
Outerchr8:3885089..3888558hg18UCSC Ensembl
Innerchr8:3885542..3886275hg17UCSC Ensembl
Outerchr8:3885089..3888558hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg383470
hg193470
hg183470
hg173470
Variant TypeCNV gain
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)nssv18883
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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