A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20970



Internal ID15496780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15014464..15015285hg38UCSC Ensembl
Outerchr8:15013139..15016050hg38UCSC Ensembl
Innerchr8:14871973..14872794hg19UCSC Ensembl
Outerchr8:14870648..14873559hg19UCSC Ensembl
Innerchr8:14916344..14917165hg18UCSC Ensembl
Outerchr8:14915019..14917930hg18UCSC Ensembl
Innerchr8:14916344..14917165hg17UCSC Ensembl
Outerchr8:14915019..14917930hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382912
hg192912
hg182912
hg172912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8298
Supporting Variants
SamplesNA19221
Known GenesSGCZ
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)nssv20970
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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