A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469607



Internal ID15187636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79824847..79970029hg38UCSC Ensembl
Innerchr18:77584847..77730029hg19UCSC Ensembl
Innerchr18:75685835..75831017hg18UCSC Ensembl
Innerchr18:75683824..75829006hg16UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38145183
hg19145183
hg18145183
hg16145183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673456
Samples
Known GenesHSBP1L1, KCNG2, PQLC1
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469607
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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