A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28380



Internal ID15496978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:28246991..28340868hg38UCSC Ensembl
Outerchr18:28169941..28452852hg38UCSC Ensembl
Innerchr18:25826955..25920832hg19UCSC Ensembl
Outerchr18:25749905..26032816hg19UCSC Ensembl
Innerchr18:24080953..24174830hg18UCSC Ensembl
Outerchr18:24003903..24286814hg18UCSC Ensembl
Innerchr18:24080953..24174830hg17UCSC Ensembl
Outerchr18:24003903..24286814hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38282912
hg19282912
hg18282912
hg17282912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9622
Supporting Variants
SamplesNA19221
Known GenesCDH2
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)nssv28380
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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