A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27115



Internal ID15841688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:39924335..39930992hg38UCSC Ensembl
Outerchr18:39923074..39931678hg38UCSC Ensembl
Innerchr18:37504299..37510956hg19UCSC Ensembl
Outerchr18:37503038..37511642hg19UCSC Ensembl
Innerchr18:35758297..35764954hg18UCSC Ensembl
Outerchr18:35757036..35765640hg18UCSC Ensembl
Innerchr18:35758297..35764954hg17UCSC Ensembl
Outerchr18:35757036..35765640hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg388605
hg198605
hg188605
hg178605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9627
Supporting Variants
SamplesNA19132
Known Genes
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)nssv27115
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