A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8512



Internal ID15846424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:64440446..64463758hg38UCSC Ensembl
Outerchr9:69452864..69476176hg19UCSC Ensembl
Outerchr9:68742684..68765996hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv18136, nssv21533
SamplesNA18972, NA18552
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)nsv8512
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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