A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19223



Internal ID15492757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829374..6085710hg38UCSC Ensembl
Outerchr8:3828180..6093948hg38UCSC Ensembl
Innerchr8:3686896..5943232hg19UCSC Ensembl
Outerchr8:3685702..5951470hg19UCSC Ensembl
Innerchr8:3674304..5930640hg18UCSC Ensembl
Outerchr8:3673110..5938878hg18UCSC Ensembl
Innerchr8:3674304..5930640hg17UCSC Ensembl
Outerchr8:3673110..5938878hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382265769
hg192265769
hg182265769
hg172265769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18972
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)nssv19223
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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