A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9050



Internal ID15846962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:133140792..133168618hg38UCSC Ensembl
Outerchr12:133717378..133745204hg19UCSC Ensembl
Outerchr12:132227451..132255277hg18UCSC Ensembl
Outerchr12:132327728..132355554hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827827
hg1927827
hg1827827
hg1727827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23425
SamplesNA19240
Known GenesZNF10
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)nsv9050
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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