A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10748



Internal ID15845711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:125971880..126192631hg38UCSC Ensembl
Outerchr5:125307573..125528324hg19UCSC Ensembl
Outerchr5:125335472..125556223hg18UCSC Ensembl
Outerchr5:125335472..125556223hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38220752
hg19220752
hg18220752
hg17220752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14056
SamplesNA18552
Known GenesLOC102546228
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)nsv10748
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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