A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469646



Internal ID15187675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70071588..70222996hg38UCSC Ensembl
Innerchr16:70105491..70256899hg19UCSC Ensembl
Innerchr16:68662992..68814400hg18UCSC Ensembl
Innerchr16:69881696..70033105hg16UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38151409
hg19151409
hg18151409
hg16151410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673692, nssv1672949, nssv1672114, nssv1675181
Samples
Known GenesCLEC18C, LOC100506060, PDPR
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)nsv469646
Frequency
Sample Size265
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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