A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9622



Internal ID15500848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28169941..28452852hg38UCSC Ensembl
Outerchr18:25749905..26032816hg19UCSC Ensembl
Outerchr18:24003903..24286814hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv27095, nssv28380, nssv24157
SamplesNA19221, NA19132, NA18853
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)nsv9622
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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