A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21919



Internal ID15837205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:72765762..72767073hg38UCSC Ensembl
Outerchr18:72765060..72767851hg38UCSC Ensembl
Innerchr18:70432997..70434308hg19UCSC Ensembl
Outerchr18:70432295..70435086hg19UCSC Ensembl
Innerchr18:68583977..68585288hg18UCSC Ensembl
Outerchr18:68583275..68586066hg18UCSC Ensembl
Innerchr18:68583977..68585288hg17UCSC Ensembl
Outerchr18:68583275..68586066hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg382792
hg192792
hg182792
hg172792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9644
Supporting Variants
SamplesNA18572
Known GenesNETO1
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)nssv21919
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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