A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178



Internal ID15842504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:137969241..137972039hg38UCSC Ensembl
Outerchr8:137967433..137973099hg38UCSC Ensembl
Innerchr8:138981484..138984282hg19UCSC Ensembl
Outerchr8:138979676..138985342hg19UCSC Ensembl
Innerchr8:139050666..139053464hg18UCSC Ensembl
Outerchr8:139048858..139054524hg18UCSC Ensembl
Innerchr8:139050666..139053464hg17UCSC Ensembl
Outerchr8:139048858..139054524hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg385667
hg195667
hg185667
hg175667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8390
Supporting Variants
SamplesNA19144
Known Genes
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)nssv18178
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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