A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16594



Internal ID15481878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7254210..7300904hg38UCSC Ensembl
Outerchr8:7253353..7301329hg38UCSC Ensembl
Innerchr8:7111732..7158426hg19UCSC Ensembl
Outerchr8:7110875..7158851hg19UCSC Ensembl
Innerchr8:7099142..7145836hg18UCSC Ensembl
Outerchr8:7098285..7146261hg18UCSC Ensembl
Innerchr8:7099142..7145836hg17UCSC Ensembl
Outerchr8:7098285..7146261hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3847977
hg1947977
hg1847977
hg1747977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA10839
Known GenesLINC00965
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)nssv16594
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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