A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469593



Internal ID15534308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:24242041..24439921hg38UCSC Ensembl
Innerchr19:24424843..24622723hg19UCSC Ensembl
Innerchr19:24216683..24414563hg18UCSC Ensembl
Innerchr19:24216683..24414563hg16UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg38197881
hg19197881
hg18197881
hg16197881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673213, nssv1673359
Samples
Known Genes
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)nsv469593
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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