A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23847



Internal ID15829259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14182878..14189956hg38UCSC Ensembl
Outerchr18:14182153..14191252hg38UCSC Ensembl
Innerchr18:14182877..14189955hg19UCSC Ensembl
Outerchr18:14182152..14191251hg19UCSC Ensembl
Innerchr18:14172877..14179955hg18UCSC Ensembl
Outerchr18:14172152..14181251hg18UCSC Ensembl
Innerchr18:14172877..14179955hg17UCSC Ensembl
Outerchr18:14172152..14181251hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg389100
hg199100
hg189100
hg179100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9612
Supporting Variants
SamplesNA10863
Known GenesANKRD20A5P
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)nssv23847
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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