A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9503



Internal ID15500729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18218160..18265852hg38UCSC Ensembl
Outerchr17:18121474..18169166hg19UCSC Ensembl
Outerchr17:18062199..18109891hg18UCSC Ensembl
Outerchr17:18062199..18109891hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3847693
hg1947693
hg1847693
hg1747693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28175
SamplesNA19221
Known GenesFLII, LLGL1, MIEF2
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)nsv9503
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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