A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24341



Internal ID15489168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50654569..50730982hg38UCSC Ensembl
Outerchr18:50532107..50922466hg38UCSC Ensembl
Innerchr18:48180939..48257352hg19UCSC Ensembl
Outerchr18:48058477..48448836hg19UCSC Ensembl
Innerchr18:46434937..46511350hg18UCSC Ensembl
Outerchr18:46312475..46702834hg18UCSC Ensembl
Innerchr18:46434937..46511350hg17UCSC Ensembl
Outerchr18:46312475..46702834hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38390360
hg19390360
hg18390360
hg17390360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9630
Supporting Variants
SamplesNA18563
Known GenesMAPK4, ME2, MRO
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)nssv24341
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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