A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28416



Internal ID15843818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:72162231..72183121hg38UCSC Ensembl
Outerchr18:72161787..72183861hg38UCSC Ensembl
Innerchr18:69829466..69850356hg19UCSC Ensembl
Outerchr18:69829022..69851096hg19UCSC Ensembl
Innerchr18:67980446..68001336hg18UCSC Ensembl
Outerchr18:67980002..68002076hg18UCSC Ensembl
Innerchr18:67980446..68001336hg17UCSC Ensembl
Outerchr18:67980002..68002076hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3822075
hg1922075
hg1822075
hg1722075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9643
Supporting Variants
SamplesNA19221
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)nssv28416
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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