A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26629



Internal ID15844329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14487682..14503126hg38UCSC Ensembl
Outerchr18:14487131..14503629hg38UCSC Ensembl
Innerchr18:14487681..14503125hg19UCSC Ensembl
Outerchr18:14487130..14503628hg19UCSC Ensembl
Innerchr18:14477681..14493125hg18UCSC Ensembl
Outerchr18:14477130..14493628hg18UCSC Ensembl
Innerchr18:14477681..14493125hg17UCSC Ensembl
Outerchr18:14477130..14493628hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3816499
hg1916499
hg1816499
hg1716499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9615
Supporting Variants
SamplesNA19240
Known GenesCXADRP3
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)nssv26629
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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