A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469680



Internal ID15534395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196290716..196449886hg38UCSC Ensembl
Innerchr1:196259846..196419016hg19UCSC Ensembl
Innerchr1:194526469..194685639hg18UCSC Ensembl
Innerchr1:193548105..193707275hg16UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38159171
hg19159171
hg18159171
hg16159171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675059
Samples
Known GenesKCNT2
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)nsv469680
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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