A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9643



Internal ID15847555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:71920707..72217653hg38UCSC Ensembl
Outerchr18:69587943..69884888hg19UCSC Ensembl
Outerchr18:67738923..68035868hg18UCSC Ensembl
Outerchr18:67738923..68035868hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38296947
hg19296946
hg18296946
hg17296946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24669, nssv28416
SamplesNA19007, NA19221
Known Genes
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)nsv9643
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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