A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10693



Internal ID15845656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32311316..32314474hg38UCSC Ensembl
Outerchr5:32311422..32314580hg19UCSC Ensembl
Outerchr5:32347179..32350337hg18UCSC Ensembl
Outerchr5:32347179..32350337hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383159
hg193159
hg183159
hg173159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13779, nssv12992
SamplesNA07029, NA12740
Known GenesMTMR12
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)nsv10693
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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