A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19123



Internal ID15486647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7465224..7585368hg38UCSC Ensembl
Outerchr8:7464642..7586230hg38UCSC Ensembl
Innerchr8:7322746..7442890hg19UCSC Ensembl
Outerchr8:7322164..7443752hg19UCSC Ensembl
Innerchr8:7310156..7430300hg18UCSC Ensembl
Outerchr8:7309574..7431162hg18UCSC Ensembl
Innerchr8:7310156..7430300hg17UCSC Ensembl
Outerchr8:7309574..7431162hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121589
hg19121589
hg18121589
hg17121589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18504
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A7P, PRR23D1, PRR23D2
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)nssv19123
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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