A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19062



Internal ID15833043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50212106..50217670hg38UCSC Ensembl
Outerchr8:50211351..50218287hg38UCSC Ensembl
Innerchr8:51124666..51130230hg19UCSC Ensembl
Outerchr8:51123911..51130847hg19UCSC Ensembl
Innerchr8:51287219..51292783hg18UCSC Ensembl
Outerchr8:51286464..51293400hg18UCSC Ensembl
Innerchr8:51287219..51292783hg17UCSC Ensembl
Outerchr8:51286464..51293400hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg386937
hg196937
hg186937
hg176937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8341
Supporting Variants
SamplesNA18502
Known GenesSNTG1
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)nssv19062
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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