A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27085



Internal ID15841602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14461476..14557187hg38UCSC Ensembl
Outerchr18:14460810..14558105hg38UCSC Ensembl
Innerchr18:14461475..14557186hg19UCSC Ensembl
Outerchr18:14460809..14558104hg19UCSC Ensembl
Innerchr18:14451475..14547186hg18UCSC Ensembl
Outerchr18:14450809..14548104hg18UCSC Ensembl
Innerchr18:14451475..14547186hg17UCSC Ensembl
Outerchr18:14450809..14548104hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3897296
hg1997296
hg1897296
hg1797296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9615
Supporting Variants
SamplesNA19132
Known GenesCXADRP3, POTEC
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)nssv27085
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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