A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20113



Internal ID15833398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67151037..67164669hg38UCSC Ensembl
Outerchr9:67145160..67165610hg38UCSC Ensembl
Innerchr9:40528172..40541804hg19UCSC Ensembl
Outerchr9:40527231..40547681hg19UCSC Ensembl
Innerchr9:40518172..40531804hg18UCSC Ensembl
Outerchr9:40517231..40537681hg18UCSC Ensembl
Innerchr9:40257455..40271087hg17UCSC Ensembl
Outerchr9:40256514..40276964hg17UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3820451
hg1920451
hg1820451
hg1720451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8456
Supporting Variants
SamplesNA18504
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)nssv20113
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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