A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20181



Internal ID15838478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:38869451..38874436hg38UCSC Ensembl
Outerchr9:38869113..38874542hg38UCSC Ensembl
Innerchr9:38869448..38874433hg19UCSC Ensembl
Outerchr9:38869110..38874539hg19UCSC Ensembl
Innerchr9:38859448..38864433hg18UCSC Ensembl
Outerchr9:38859110..38864539hg18UCSC Ensembl
Innerchr9:38859448..38864433hg17UCSC Ensembl
Outerchr9:38859110..38864539hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg385430
hg195430
hg185430
hg175430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8446
Supporting Variants
SamplesNA18860
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)nssv20181
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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