A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12303



Internal ID15481024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40752877..40767696hg38UCSC Ensembl
Outerchr4:40747595..40839477hg38UCSC Ensembl
Innerchr4:40754894..40769713hg19UCSC Ensembl
Outerchr4:40749612..40841494hg19UCSC Ensembl
Innerchr4:40449651..40464470hg18UCSC Ensembl
Outerchr4:40444369..40536251hg18UCSC Ensembl
Innerchr4:40595822..40610641hg17UCSC Ensembl
Outerchr4:40590540..40682422hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3891883
hg1991883
hg1891883
hg1791883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10486
Supporting Variants
SamplesNA07048
Known GenesAPBB2, NSUN7
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)nssv12303
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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