A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17911



Internal ID15497707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7361638..7362545hg38UCSC Ensembl
Outerchr8:7360647..7362857hg38UCSC Ensembl
Innerchr8:7219160..7220067hg19UCSC Ensembl
Outerchr8:7218169..7220379hg19UCSC Ensembl
Innerchr8:7206570..7207477hg18UCSC Ensembl
Outerchr8:7205579..7207789hg18UCSC Ensembl
Innerchr8:7206570..7207477hg17UCSC Ensembl
Outerchr8:7205579..7207789hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382211
hg192211
hg182211
hg172211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
Known GenesZNF705G
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)nssv17911
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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