A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469775



Internal ID15187804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96575189..96746754hg38UCSC Ensembl
Innerchr2:97240926..97412491hg19UCSC Ensembl
Innerchr2:96604653..96776218hg18UCSC Ensembl
Innerchr2:96725682..96897247hg16UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38171566
hg19171566
hg18171566
hg16171566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675730
Samples
Known GenesFER1L5, KANSL3, LMAN2L
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)nsv469775
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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