A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9713



Internal ID15500939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46548217..46563427hg38UCSC Ensembl
Outerchr2:46775356..46790566hg19UCSC Ensembl
Outerchr2:46628860..46644070hg18UCSC Ensembl
Outerchr2:46687007..46702217hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3815211
hg1915211
hg1815211
hg1715211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28022
SamplesNA19132
Known GenesRHOQ
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)nsv9713
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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