A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8839



Internal ID15500065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74821292..74823028hg38UCSC Ensembl
Outerchr11:74532337..74534073hg19UCSC Ensembl
Outerchr11:74209985..74211721hg18UCSC Ensembl
Outerchr11:74209985..74211721hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
hg171737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22411
SamplesNA19240
Known GenesRNF169
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)nsv8839
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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