A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18957



Internal ID15494974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7253353..7300904hg38UCSC Ensembl
Outerchr8:7252346..7301329hg38UCSC Ensembl
Innerchr8:7110875..7158426hg19UCSC Ensembl
Outerchr8:7109868..7158851hg19UCSC Ensembl
Innerchr8:7098285..7145836hg18UCSC Ensembl
Outerchr8:7097278..7146261hg18UCSC Ensembl
Innerchr8:7098285..7145836hg17UCSC Ensembl
Outerchr8:7097278..7146261hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3848984
hg1948984
hg1848984
hg1748984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19132
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)nssv18957
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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