A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8572



Internal ID15846484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130935913..130944286hg38UCSC Ensembl
Outerchr9:133811300..133819673hg19UCSC Ensembl
Outerchr9:132801121..132809494hg18UCSC Ensembl
Outerchr9:130840854..130849227hg17UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg388374
hg198374
hg188374
hg178374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19358, nssv21261
SamplesNA12155, NA18860
Known GenesFIBCD1
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)nsv8572
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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