A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469719



Internal ID15187748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67748715..67910810hg38UCSC Ensembl
Innerchr11:67516186..67678281hg19UCSC Ensembl
Innerchr11:67272762..67434857hg18UCSC Ensembl
Innerchr11:67291546..67453641hg16UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38162096
hg19162096
hg18162096
hg16162096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673003, nssv1674635, nssv1676238
Samples
Known GenesFAM86C2P
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)nsv469719
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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