A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19131



Internal ID15491377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4971654..4984158hg38UCSC Ensembl
Outerchr8:4971019..4985957hg38UCSC Ensembl
Innerchr8:4829176..4841680hg19UCSC Ensembl
Outerchr8:4828541..4843479hg19UCSC Ensembl
Innerchr8:4816584..4829088hg18UCSC Ensembl
Outerchr8:4815949..4830887hg18UCSC Ensembl
Innerchr8:4816584..4829088hg17UCSC Ensembl
Outerchr8:4815949..4830887hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3814939
hg1914939
hg1814939
hg1714939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18860
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)nssv19131
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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