A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24505



Internal ID15494298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36574508..36576585hg38UCSC Ensembl
Outerchr18:36573663..36578066hg38UCSC Ensembl
Innerchr18:34154471..34156548hg19UCSC Ensembl
Outerchr18:34153626..34158029hg19UCSC Ensembl
Innerchr18:32408469..32410546hg18UCSC Ensembl
Outerchr18:32407624..32412027hg18UCSC Ensembl
Innerchr18:32408469..32410546hg17UCSC Ensembl
Outerchr18:32407624..32412027hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384404
hg194404
hg184404
hg174404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9626
Supporting Variants
SamplesNA19007
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)nssv24505
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer