A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26131



Internal ID15830911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14182878..14187640hg38UCSC Ensembl
Outerchr18:14182153..14188150hg38UCSC Ensembl
Innerchr18:14182877..14187639hg19UCSC Ensembl
Outerchr18:14182152..14188149hg19UCSC Ensembl
Innerchr18:14172877..14177639hg18UCSC Ensembl
Outerchr18:14172152..14178149hg18UCSC Ensembl
Innerchr18:14172877..14177639hg17UCSC Ensembl
Outerchr18:14172152..14178149hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg385998
hg195998
hg185998
hg175998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9612
Supporting Variants
SamplesNA12155
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)nssv26131
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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