A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27591



Internal ID15491727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36461346..36463076hg38UCSC Ensembl
Outerchr18:36458924..36464360hg38UCSC Ensembl
Innerchr18:34041309..34043039hg19UCSC Ensembl
Outerchr18:34038887..34044323hg19UCSC Ensembl
Innerchr18:32295307..32297037hg18UCSC Ensembl
Outerchr18:32292885..32298321hg18UCSC Ensembl
Innerchr18:32295307..32297037hg17UCSC Ensembl
Outerchr18:32292885..32298321hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385437
hg195437
hg185437
hg175437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9625
Supporting Variants
SamplesNA18860
Known GenesFHOD3
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)nssv27591
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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