A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8485



Internal ID15846397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40221560..40227913hg38UCSC Ensembl
Outerchr9:43128912..43135332hg19UCSC Ensembl
Outerchr9:43118908..43125328hg18UCSC Ensembl
Outerchr9:45516856..45523209hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg386354
hg196421
hg186421
hg176354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845
SamplesNA18980
Known GenesANKRD20A2, ANKRD20A3
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)nsv8485
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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