A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18136



Internal ID15835296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:64444285..64463333hg38UCSC Ensembl
Outerchr9:64440446..64463758hg38UCSC Ensembl
Innerchr9:69456703..69475751hg19UCSC Ensembl
Outerchr9:69452864..69476176hg19UCSC Ensembl
Innerchr9:68746523..68765571hg18UCSC Ensembl
Outerchr9:68742684..68765996hg18UCSC Ensembl
Innerchr9:67359579..67378627hg17UCSC Ensembl
Outerchr9:67355740..67379052hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3823313
hg1923313
hg1823313
hg1723313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8512
Supporting Variants
SamplesNA18552
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)nssv18136
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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